diagnosis

Physician-patient communication is the most basic element and vital skill of physicians in the diagnosis, treatment, and establishing diagnostic protocols. As the risks of contagion and viral infection are higher in physicians and health workers, front line soldiers inpatient care units, so they should establish strict protective measures. However, patients value greatly face to face and close relationships with their doctors, including facial interviews and physical examinations. So social and physical distancing between physician and their patients can be remarked as a bigger toll than the risk of COVID-19 contagious.

Background: In India, the genetic disease is a disregarded service element in the community health- protection system. This study aims to gauge the accessibility of services for treating genetic disorders and also to evaluate the practices on deterrence and management services in the district health system. Methods: A cross-sectional survey of selected health amenities from 454 medical officers (MO’s), 94 accredited social health activist (ASHAs) workers, 86 multipurpose health assistant-female (MPHA-F), 34 multipurpose health assistant-male (MPHA-M), 14 multipurpose health supervisors-female (MPHS-F), 10 multipurpose health supervisors-male (MPHS-M), 6 multipurpose health extension officer/ community health officer (MPHEO/CHO), 10 public health nurse (PHN), 45 lab technicians (LT’s) working in the government health sector and 254 in the private health sector, 409 nursing staff working in the government health sector and 995 in the private health sector, 15 primary health centers (PHC’s), 4 community health centers (CHC’s), 1 district government hospital (DGH), 3 referral hospitals (RH’s). From the side of private health institutions 25 corporate hospitals (CH’s), 3 medical colleges (MC’s), and 25 diagnostic laboratories (DL’s) were conducted. Results: The findings show that adequate staff was in place at more than 70% of health centers, but none of the staff have obtained any operative training on genetic disease management. The largest part of the DH’s had rudimentary infrastructural and diagnostic facilities. However, the greater part of the CHC’s and PHC’s had inadequate diagnostic facilities related to genetic disease management. Biochemical, molecular, and cytogenetic services were not available at PHC’s and CHC’s. DH’s, RH’s, and all selected medical colleges were found to have offered the basic Biochemical genetics units during the survey. In 24% of CH’s, the basic biochemical units are available and 32% (8 out of 25) of DL’s have the advanced biochemical genetics units by study. Molecular genetics units were found to be available in 28% (7 out of 25) of DL’s during the study. About 6 (24%) diagnostic centers of cytogenetic laboratories were located in the Visakhapatnam district under the private sector. Conclusion: The district health care infrastructure in India has a shortage of basic services to be provided for the genetic disorder. With some policy resolutions and facility strengthening, it is possible to provide advanced services for a genetic disorder in the district health system.

Nanotechnology is a smart technology in the field of biomedical engineering used for the diagnosis and treatment of diseases. Nanodrugs provide better encapsulation of drug and efficiency at low dosage to kill the targeted tissue/cells. However, the chances of chronic toxicity and high cost of treatment limits its applicability [1]. To overcome these problems still, the experts of the scientific community have been working on it, to design the best one and cost-effective treatment for the human welfare.

Highly selective and sensitive detection of cardiac troponin I (cTnI) is a powerful complement to clinical diagnosis of acute myocardial infarction (AMI). In this study, a strategy for cTnI detection was developed by constructing a universal biosensing interface composed of zwitterionic peptides and aptamers. The peptides were self-assembled onto gold chips, and some of them were biotinylated. The cTnI-specific binding aptamers were immobilized through the streptavidin-biotin system. Surface plasmon resonance (SPR) measurements revealed the preparation process. The developed aptasensor presents a linear detection with cTnI ranging from 20 ng/ml to 600 ng/ml and a detection limit of 20 ng/ml. The high immobilization of the aptamer enhances the sensitivity of the aptasensor and the calculated KD was 6.75 nM. Due to the outstanding antifouling property of the zwitterionic peptide, the developed aptasensor possesses a high resistance towards protein fouling. Moreover, the aptasensor has excellent selectivity and specificity towards cTnI in complex media. Hence, the proposed peptide-based aptasensor shows great potential for practical application in medium sized Myocardial Infarction (MI).

Pure Erythroid Leukemia (PEL) is an aggressive and exceedingly rare form of acute leukemia. In the 2008 WHO classification PEL was one of the subtypes of acute erythroid leukemia the other subtype being erythroleukemia (erythroid/ myeloid). In the 2016 WHO classification update, erythroleukemia was merged into myelodysplastic syndrome and PEL now is the only type of acute erythroid leukemia.106 cases of acute myeloid leukemia were diagnosed in 28 months in children’s hospital Lahore and PEL constituted 0.94%. Diagnosis of PEL is made by the bone marrow morphology showing predominant Immature erythroid precursors (proerythroblastic or undifferentiated), Periodic Acid- Schiff staining and immunophenotyping. In PEL no specific genetic mutations have been described but complex karyotypes and TP53 mutations are frequently noted. Future collaborative studies to identify the molecular defects will contribute to the development of targeted therapies that might improve the prognosis.

Background: This study aims to retrospectively investigate the comorbidity of ADHD multiple symptoms (behavioral) with alcohol addiction in a sample of adult alcohol-dependent patients and to test their current attentional skills (behavioral and cognitive). Methods: Thirty-two adult alcohol-dependent patients were examined for ADHD using a semi-structured interview and the Mini Mental State Examination to evaluate attention and inhibition functions. Brown ADD Scales were used to specifically examine ADHD syndrome. Patients were compared with thirty matched control participants selected from healthy population in few measures of attentional control and working memory. Results: 50% of patients showed evidence of primary ADHD symptoms: specifically, 28.12% showed criteria for ADHD highly probable, 12.50% for ADHD probable but not certain and 9.38% for ADHD possible but not likely. Patients also revealed several deficits in the selective visual attention, interference control and verbal working memory compared to the control group. Conclusions: These results revealed that adult alcohol-dependent patients had retrospectively high comorbidity with ADHD and significant current deficits of the executive functions. These findings suggest the importance of early diagnosis and treatment of ADHD in order to prevent the development of alcohol dependence.

The broad spectrum of heterozygous versus homozygous JAK2V617F mutated MPN consists ET, ET with early features of PV (prodromal PV), classical PV, masked PV, advanced PV and post-PV myelofibrosis. Combined use of bone marrow histology and increased erythrocyte counts above 5.8x1012/L can replace increased red cell mass at time of presentation as the pathognomonic clue for the correct diagnosis of hetero/homozygous or homozygous mutated PV. Erythrocyte counts are in the normal range below 5.8x1012/L in heterozygous JAK2V617F mutated ET and prodromal PV but above 5.8x1012/L in heterozygous-homozygous or homozygous mutated PV. The bone marrow cellularity and morphology in pre-fibrotic ET, prodromal PV and PV carrying the JAK2V617F mutation are overlapping showing clustered increase of large mature pleomorphic megakaryocytes (M) with no increase of cellularity (<60%) in ET. The bone marrow is hypercellular (60%-80%) due to increased erythropoiesis megakaryopoiesis (EM) in prodromal and classical PV and trilinear hypercellular (80%-100% due increased megakaryopoiesis, erythropoiesis and granulopoiesis (EMG) in advanced PV and masked PV. Bone marrow cellularity ranging from normal (<60%) in ET to increased erythropoiesis (EM) in prodromal PV to hypercellular (80-100%) in advanced PV and masked PV largely depends on increasing JAK2V617F mutation load from low to high on top of other biological MPN variables like constitutional symptoms during long-term follow-up. MPL515 mutated ET is featured by an increase of clustered small and giant megakaryocytes with hyper-lobulated staghorn-like nuclei in a normal cellular bone marrow. The third entity of pronounced JAK2/MPL wild type ET associated with primary megakaryocytic granulocytic myeloproliferation (PMGM) without PV features proved to be caused by calreticulin (CALR) mutation. CALR mutated thrombocythemia is characterized by dual proliferation of megakaryocytic and granulocytic bone marrow proliferation of dense clustered large to giant immature dysmorphic megakaryocytes with bulky (bulbous) hyperchromatic nuclei, which are not seen in MPL515-mutated Thrombocythemia and JAK2V617F-Thrombocythemia, prodromal PV and classical PV. 

Primary myelofibrosis (PMF) is a distinct clinicopathological myeloproliferatve disease (MPD) not preceded by any other MPD ET, PV, CML,... Combined use of bone marrow histology and increased erythrocyte counts above 5.8x1012/L can replace increased red cell mass at time of presentation as the pathognomonic clue for the correct diagnosis of hetero/homozygous or homozygous mutated PV. Erythrocyte counts are in the normal range below 5.8x1012/L in heterozygous JAK2V617F mutated ET and prodromal PV but above 5.8x1012/L in heterozygous-homozygous or homozygous mutated PV. The bone marrow cellularity and morphology in pre-fibrotic ET, prodromal PV and PV carrying the JAK2V617F mutation are overlapping showing clustered increase of large mature pleomorphic megakaryocytes (M) with no increase of cellularity (<60%) in ET. The bone marrow is hypercellular (60%-80%) due to increased erythropoiesis megakaryopoiesis (EM) in prodromal and classical PV and trilinear hypercellular (80%-100% due increased megakaryopoiesis, erythropoiesis and granulopoiesis (EMG) in advanced PV and masked PV. Bone marrow cellularity ranging from normal (<60%) in ET to increased erythropoiesis (EM) in prodromal PV to hypercellular (80-100%) in advanced PV and masked PV largely depends on increasing JAK2V617F mutation load from low to high on top of other biological MPN variables like constitutional symptoms during long-term follow-up. MPL515 mutated ET is featured by an increase of clustered small and giant megakaryocytes with hyper-lobulated staghorn-like nuclei in a normal cellular bone marrow. The third entity of pronounced JAK2/MPL wild type ET associated with primary megakaryocytic granulocytic myeloproliferation (PMGM) without PV features proved to be caused by calreticulin (CALR) mutation. CALR mutated thrombocythemia is characterized by dual proliferation of megakaryocytic and granulocytic bone marrow proliferation of dense clustered large to giant immature dysmorphic megakaryocytes with bulky (bulbous) hyperchromatic nuclei, which are not seen in MPL515-mutated Thrombocythemia and JAK2V617F-Thrombocythemia, prodromal PV and classical PV. 

The present article extends the PVSG-WHO criteria into a simplified set of Rotterdam and European Clinical, Molecular and Pathological (RCP/ECMP) criteria to diagnose and classify the myeloproliferative neoplasms (MPNs). The crude WHO criteria still miss the masked and early stages of ET and PV. Bone marrow histology has a near to 100% sensitivity and specificity to distinguish thrombocythemia in BCR/ABL positive CML and ET, and the myelodysplastic syndromes in RARS-T and 5q-minus syndrome from BCR/ABL negative thrombocythemias in myeloproliferative disorders (MPD). The presence of JAK2V617F mutation with increased erythrocytes above 6x1012/L and hematocrit (>0.51 males and >0.48 females) is diagnostic for PV obviating the need of red cell mass measurement. About half of WHO defined ET and PMF and 95% of PV patients are JAK2V617F positive. The combination of molecular marker screening JAK2V617F, JAK2 exon 12, MPL515 and CALR mutations and bone marrow pathology is 100% sensitive and specific for the diagnosis of latent, early and classical ECMP defined MPNs. The translation of WHO defined ET, PV and PMF into ECMP criteria have include the platelet count above 350 x109/l, mutation screening and bone marrow histology as inclusion criteria for thrombocythemia in various MPNs. According to ECMP criteria, ET comprises three distinct phenotypes of true ET, ET with features of early (“forme fruste” PV), and ET with a hypercellular erythrocythemic, megakaryocytic granulocytic myeloproliferation (EMGM or masked PV). The ECMP criteria clearly differentiate early erythrocythemic, prodromal and classical PV from congenital polycythemia and idiopathic or secondary erythrocytosis. The burden of JAK2V617F mutation in heterozygous ET and in homozygous PV is of major clinical and prognostic significance. JAK2 wild type MPL515 mutated normocellular ET and MF lack PV features in blood and bone marrow. JAK2/MPL wild type hypercellular ET associated with primary megakaryocytic granulocytic myeloproliferation (PMGM) is the third distinct CALR mutated MPN. The translation of WHO into ECMP criteria for the classification of MPNs have a major impact on prognosis assessment and best choice for first line non-leukemogenic approach to postpone potential leukemogenic myelopsuppressive agents as long as possible in ET, PV and PMGM patients.

Sleep disorders in human are common and detrimental to general health of all age groups. While the neurobiological mechanisms of sleep disorders are not yet fully understood, recent advances in research on the sleep-wake regulation mechanism, genetic and epigenetic factors, cognitive, emotional and physiological changes related to sleep have shed light on the mechanistic basis of sleep disorders. Over the past two decades, studies in Drosophila have yielded new insights into basic questions regarding sleep function and regulation. More recently, powerful genetic approaches in the fly have been applied toward studying primary human sleep disorders and other disorders associated with dysregulated sleep. In this review, we discussed recent advances in neurobiology of sleep-wave cycle and common sleep disorders. Understanding these mechanisms are important in the diagnosis, treatment and prevention of these common disorders.

Lesions that spontaneously come and go in central nervous system without any treatment at different time points and at different locations (CNS) usually lead ones to think of the possibilities of multiple sclerosis. However, sometimes there are exceptions. Surgical biopsy remains an important tool for definitive diagnosis in difficult cases. We report a case of intracranial diffuse large B cell lymphoma that spontaneously disappeared without any treatment and then reappeared at different time points and different locations.

Background: A Grey 12-year-old Arabian endurance horse gelding was referred to the SHS Veterinary Center for anorexia, mild colic of 5 days duration, and melena of 1 day duration. The owner reported recurring colic, 12 episodes of mild colic in the previous year. Methods: On admission, vital signs were within normal limits and body condition score was estimated to be 3/9. Results: Packed cell volume (PCV) was 28% [reference range (RR): 31% to 47%] and plasma total protein was 58 g/L (RR: 60 to 80 g/L). Hematochezia was observed. Abdominal ultrasound examination detected no abnormalities. Over the next 12 h, the horse experienced hematochezia and several mild episodes of colic and death. A necropsy was performed. A mass arising from the right dorsal ascending colon near the base of the cecum and extending transmurally from the colonic mucosa into the mesocolon was a 8 cm × 5 cm × 8 cm firm, homogenous, tan mass. The portion of the mass that extended into the colonic lumen was pedunculated, with an ulcerated surface. The adjacent segments of colon were markedly reddened and edematous. Histologically, the mass was comprised of large interweaving sheets of small, spindle cells with ill-defined cell borders embedded in abundant myxomatous matrix. Tumor cells contained scant eosinophilic cytoplasm and oval to elongate nuclei with finely stippled chromatin and inconspicuous nucleoli. Mitotic figures were rare (1/10) high power fields. Tumor infiltrated between the muscularis interna and the muscularis externa at the myenteric plexi. Conclusion: Gross and histologic appearance, were consistent with a diagnosis of gastrointestinal stromal tumor.

Objective: Currently, Parkinson’s disease (PD) is becoming more common among younger people of ages from 30 – 40 years. The incidence is higher among patients with higher body mass index (BMI), and some reports had it that Obesity is a risk factor for PD while some reported that there is no relationship between obesity and PD. PD patient at the time of diagnosis has an above-normal BMI but which goes below normal as the disease progresses. Therefore, it is essential to explore the relationship between PD and Obesity. Methods: 349 outpatients and inpatients with PD were selected from Jiangsu University Affiliated People’s Hospital from January 2014 to December 2018, while 74 inpatients with non-cerebrovascular illness in the same period were selected as the control group. According to Hoehn-Yahr grade, Parkinson’s patients were divided into three groups. The height, weight, waist and hip circumference, total cholesterol (TC), Total Glycerol (TG), high-density lipoprotein cholesterol (HDL-C) and low-density lipoprotein cholesterol (LDL-C) were measured and recorded. The relationship between the severity of Parkinson’s disease and blood lipids was evaluated. Results: The BMI of patients with PD in the early stage was higher than that of the control group, but lower than that of the control group in the late stage, and the level of blood lipid in the patients with early PD was significantly higher than that in the control group and patients with advanced PD, especially in TG. The waist circumference and hip circumference of the patients with early PD were higher than those in the control group, but there was no statistical difference. Conclusion: i) Obesity may increase the prevalence of PD. ii) The BMI of patients with PD shows two-way changes in different periods. iii) The BMI is higher and cholesterol is more elevated in the early stage of patients with PD, while at the advanced stage of the disease, the BMI and lipid levels of the patients showed a downward trend, which may be associated with a metabolic syndrome associated with dopamine depletion.

Objective: Atlantoaxial subluxation (AAS) occurs when there is misalignment of the atlantoaxial joint. Several etiologies confer increased risk of AAS in children, including neck trauma, inflammation, infection, or inherent ligamentous laxity of the cervical spine. Methods: A single-center, retrospective case review was performed. Thirty-four patients with an ICD-10 diagnosis of S13.1 were identified. Demographics and clinical data were reviewed for etiology, imaging techniques, treatment, and clinical outcome. Results: Out of thirty-four patients, twenty-two suffered cervical spine trauma, seven presented with Grisel’s Syndrome, four presented with ligamentous laxity, and one had an unrecognizable etiology. Most diagnoses of cervical spine subluxation and/or instability were detected on computerized tomography (CT), while radiography and magnetic resonance imaging (MRI) were largely performed for follow-up monitoring. Six patients underwent cervical spine fusion, five had halo traction, twelve wore a hard and/or soft collar without having surgery or halo traction, and eight were referred to physical therapy without other interventions. Conclusion: Pediatric patients with atlantoaxial subluxation may benefit from limited 3D CT scans of the upper cervical spine for accurate diagnosis. Conservative treatment with hard cervical collar and immobilization after reduction may be attempted, but halo traction and halo vest immobilization may be necessary. If non-operative treatment fails, cervical spine internal reduction and fixation may be necessary to maintain normal C1-C2 alignment.

Objectives: Evaluation of the effectiveness the method of transcranial electrostimulation in treatment of neuropsychiatric disorders with the use of a patches by the company “Aganyan”. Materials and methods: The study was a double-blind, randomized, placebo-controlled study, participated 106 patients with neuropsychiatric disorders. All participants in were divided into tables according to gender, age and diagnosis. Each subject was given the “Aganyan” patches and a special brochure, in which the method of application was indicated in detail. The wearable patch includes a flexible substrate, a binder an adhesive layer, with an electrode foil attached to it. Patients applied one patch behind each ear. The patches were applied for eight hours every third day for three months. To assess the effectiveness of therapy in patients the following tests were used: The Montreal Cognitive Assessment Scale; MMSE Scale: Concise Mental Status Scale; diaries of observation of the patient’s condition to identify side effects; special brochures in which the subjects independently indicated the effects of the “Aganyan” patches. Tests were performed before and after the use of the “Aganyan” patches. Results: When using the patches of the “Aganyan” company, none of the participants in the study had any side effects; According to the results of the Montreal test according to the criterion of memory and the MMSE test, the effectiveness of the patch was noted in patients with all clinical diagnoses. The greatest positive dynamics was revealed according to the results of the Montreal test according to the criterion of memory in patients with migraine (30%), insomnia (31%), vascular dementia (32%), and according to the results of the MMSE test in patients with diagnoses: cerebrovascular disease: consequences of a cerebral infarction brain (31%), vascular dementia (56%). Conclusion: The patches of “Aganyan” company have proven its effectiveness through electrical stimulation with low-intensity current in patients in different age groups with different clinical diagnoses.

Systemic arterial air embolism (SAAE) is a rare but serious complication of CT-guided hook wire localization of pulmonary nodule usually with catastrophic and poor outcome. Hook wire needle localization is done pre-operatively by placing wire around or into the pulmonary nodule to provide the thoracic surgeon accurate location guidance of the target nodule for Video-Assisted Thoracoscopic Surgery (VATS) wedge resection with safety margins. Physicians should be aware of this possible complication during the procedure in order to rescue the patient promptly as it requires rapid diagnosis and management. We describe a 55-year-old male who underwent a CT-guided hook wire needle localization of left upper lobe lung cancer and left lower lobe pulmonary nodule prior to planned VATS wedge resection who developed altered mental status and bilateral lower extremities paralysis after wire placement was completed. His CT head demonstrated small air embolism in the left occipital area, confirming the diagnosis of cerebral air embolism and follow up CT and MRI of the head revealed multiple areas of brain infarction. In addition, he was diagnosed with anterior spinal cord syndrome (ACS), most likely due to anterior spinal artery ischemia from micro air embolism on the basis of clinical findings but with negative ischemic changes on MRI of the spinal cord. His mental status recovered but he remained paraplegic and transferred to inpatient rehabilitation service.

Background: A misguided auto-reactive injury is responsible for several types of central nervous system (CNS) conditions in pediatrics. We propose that, in some of these conditions, the adaptive immune system has a common cellular immune pathogenesis, driven predominantly by T cells, despite variability on the phenotypical clinical presentation. Methods: We have characterized the CD4+/CD8+ adaptive immune response (AIR) on pediatric patients presenting with clinical symptoms compatible with Neuroimmune Disorders (NID). Flow cytometry with deep immunophenotyping of T cells was performed on peripheral blood obtained during the acute clinical phase and compared to an age-matched cohort group (Co). Results: We found that pediatric patients with confirmed NID, exhibit a pattern of dysregulation of CD4+ lineages associated with autoimmune processes. Discussion: The autoimmune associated CD4+ dysregulation was associated with patients with NID, as compared to healthy controls and patients with non-autoimmune diagnoses. If we can improve our capacity for early accurate diagnosis and meaningful disease monitoring of pathogenic T cell subsets, we can both expedite disease detection and may serve as a guide to the administration of effective immunotherapeutic agents.

Mitochondrial and lysosomal dysfunction accounts for a large group of inherited metabolic disorders most of which are due to a dysfunctional mitochondrial respiratory chain (MRC) leading to deficient energy production and defects in phagocytosis in endosomal-lysosomal pathway respectively. MRC function depends on the coordinated expression of both nuclear (nDNA) and mitochondrial (mtDNA) genomes. Thus, mitochondrial diseases can be caused by genetic defects in either the mitochondrial or the nuclear genome, or in the cross-talk between the two. The mitochondrial DNA depletion syndromes (MDSs) are a clinically heterogeneous group of disorders with an autosomal recessive pattern of inheritance that have onset in infancy or early childhood and are characterized by a reduced number of copies of mtDNA in affected tissues and organs. In this review article, we summarized the spectrum of mtDNA depletion disorders along with minor learning of lysosomal storage diseases. This current article offers a perspective on the role of genetics in medical practice and how this role may evolve over the next several years.

Parkinson’s disease (PD) is thought to be the most common neurodegenerative disease with movement disorder. The key motor symptoms are rigidity, tremor, akinesis/hypokinesia/bradykinesia, and postural instability. However, in our day-to-day clinical practice we tend to see several other symptoms which may be motor or non-motor. Non-motor symptoms (NMS) are quite common and debilitating. The pathological hallmarks of PD are loss of dopaminergic neurons in the substantia nigra pars compacta (SNPc) and accumulation of unfolded or misfolded alpha-synuclein. Diagnosis of PD is difficult in the pre-motor stage. Late diagnosis renders a substantial loss of dopaminergic neurons in SNPc and spread of disease in other parts of the brain. This may manifest as either full blown symptoms requiring multiple medications or may even lead to life threatening condition due to lack of early diagnostic tools and techniques. Biomarkers are required to diagnose PD at a very early stage when prevention is possible. Hence, we see a lot of interest among researchers involved in finding a biomarker specific to the disease. Biomarkers may be clinical, image based, genetic, and biochemical. Cerebrospinal fluid (CSF) and serum markers which may correlate with disease pathophysiology are of great significance. One such molecule which recently gained a lot of attention is neuron-specific enolase (NSE). The main aim of this paper is to highlight the role of NSE in predicting neurodegeneration and neuroinflammation ultimately reflecting damage of brain cells in PD.

Objectives: To describe a patient with facial-onset sensory-motor neuronopathy (FOSMN) that later developed Huntington’s disease (HD). Case report: A 62-year-old woman complained of progressive dysphagia 8 years before referral. At initial evaluation, there was excessive salivation, dysphagia, and sensory-motor trigeminal impairment. Denervation was noted on the upper limbs and the tongue. Blink reflexes were abolished. Genetic study of amyotrophic lateral sclerosis (ALS)-related genes was normal. She was diagnosed with FOSMN syndrome. Her clinical state progressively worsened with corneal anesthesia, severe denutrition, right arm and axial weakness. Seven years after referral, she was unable walk and developed generalized chorea. Abnormal huntingtin gene repeat expansion confirmed the diagnosis of HD. She died 16 years after onset of dysphagia. Conclusion: Cases with both HD and ALS have already been reported but not FOSMN and HD, to our knowledge. Some FOSMN cases have been linked to ALS-related gene mutations and HD phenocopies have been associated with C9ORF72 repeat expansions. Recently, huntingtin repeat expansions were described in the ALS population. Although a chance association cannot be excluded, data from the literature are in favor of a pathogenic relationship between FOSMN and HD in this particular case. We suggest that huntingtin gene be more systematically studied in patients with FOSMN.