A Rare Case Of Young Onset Ataxia: Spinocerebellar Ataxia Type 40
Objective: Spinocerebellar ataxias a heterogeneous group autosomal dominant neurodegenerative diseases with the main clinical feature of ataxia. Among various types, spinocerebellar ataxia type 40 (SCA40)…A Unique case of Ataxia, Neuropathy, and chronic cough: CANVAS
Objective: We describe a unique case of a 68-year-old man with chronic ataxia, spasmodic cough, neuropathy and hearing loss who was initially felt to have…Autosomal recessive spastic ataxia of Charlevoix–Saguenay: Case report with 3 family members affected.
Objective: Report a case of ARSACS in a patient with 2 siblings also affected Background: Autosomal recessive spastic ataxia of Charlevoix–Saguenay (ARSACS) is a rare…Diagnostic challenges with novel SCA variants: A case of STUB1 mutation
Objective: We present a case of SCA48 found on multi-gene sequencing panel [MGSP] after negative dementia workup. Background: Spinocerebellar ataxia [SCA] is a genotypically &…Dopa-responsive ataxia with compound heterozygous variants in MRE11
Objective: To evaluate the role for levodopa in patients with ataxia telangiectasia like disorder (ATLD) who have a compound heterozygous mutation in MRE11. Background: Early-onset…Autosomal recessive cerebellar ataxias: a Tunisian cohort of 168 patients
Objective: The aim of our study is to describe epidemiological, clinical and paraclinical features of the different autosomal recessive cerebellar ataxias (ARCA) identified in our…Spastic Ataxia Associated with Congenital Myasthenia Related to the VAMP1 Gene: Report of an Affected Family in Brazil.
Objective: To describe a family with both congenital myasthenia and spastic ataxia Background: The vesicle-associated membrane protein - VAMP1 is associated with synaptic activation in…Phenotypic variability of mitochondrial tRNA Ser(UCN) gene [MTTS1] mutation: First report from India
Objective: To describe a rare cause of mitochondrial ataxia in an Indian Agarwal family, associated with cytochrome c oxidase deficiency due to point mutation in…Electrophysiological study of 122 Tunisian patients with autosomal recessive cerebellar ataxia
Objective: We aim through this study to describe the electrophysiological features of the different Autosomal recessive cerebellar ataxias (ARCA) in our population in order to…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.…
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