Non Classified Spinocerebellar Ataxia-like Syndrome due to GYG-1 gene mutation with TPM3, GEMIN5 and DES mutations in a Peruvian family
Objective: To report a GYG1 mutation in a Peruvian family presenting as a non classified Spinocerebellar Ataxia (SCA) with added GEMIN5, DES and TPM3 mutations.…Spastic Ataxia and Motorneuron disease as possible manifestations of ATP13A2 (PARK 9) variants
Objective: To describe 5 late-onset sporadic cases carrying either biallelic or monoallelic variants in ATP13A2, showing either spastic ataxia(Spatax) or primary lateral sclerosis (PLS) as…CANVAS: think to assess cognition!
Objective: To determine the frequency and severity of cognitive impairment in RFC1-positive patients and comprehensively describe the pattern of cognitive disorders. Background: Cerebellar ataxia, neuropathy,…Ataxia Telangiectasia Diagnosis in Lower-Middle-Income Countries: A Case Report
Objective: to describe clinical features and diagnostic tests in a patient with Ataxia Telangiectasia (AT) in Vietnam. Background: AT is a rare hereditary syndrome, the…Progressive Apraxia of Speech as a Presenting Symptom of Spinocerebellar Ataxia Type 2
Objective: To describe a spinocerebellar ataxia (SCA) presenting with progressive apraxia of speech (AOS), a previously undescribed SCA phenotype. Background: Spinocerebellar ataxia type 2 (SCA2)…Phenomenology of Coenzyme Q10-deficiency Spinocerebellar Ataxia: Case Description Of Two Siblings And New Therapeutic Perspectives
Objective: To describe the phenomenology of SCAR9, caused by a homozygotic mutation in COQ8A gene, and to describe the positive effects of a holistic approach…Genetic Architecture Of Movement Disorder And Its Association With Consanguinity In Pashtoon Population
Objective: Purpose of the study was to improve the understanding on genetic basis of movement disorders and use of this information for protective measurements like…NGS diagnosis rate in a combined cerebellar ataxia and spastic paraplegia series from southern Spain
Objective: To evaluate the diagnosis rate of Next Generation Sequencing (NGS) in a combined series of patients with progressive cerebellar ataxia (CA) and progressive spastic…A Novel Mutation of NKX2-1 Gene: A Rare Presentation of Chorea
Objective: NKX2-1-related disorders encompass a spectrum extending from benign hereditary chorea (BHC) to choreoathetosis, hypothyroidism, neonatal respiratory distress. The prevalence of chorea remains undetermined, albeit…Adult-onset Niemann-Pick C in India: phenotype and genotype
Objective: This study was aimed to describe the clinical, radiological, and molecular profile of adults affected by NPC. Background: Adult-onset Niemann-Pick C (NPC) is a…
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