Daughter’s ataxia reveals father’s genetic Parkinsonism. The first reported case of Spinocerebellar ataxia -15 presenting with levodopa responsive hemi Parkinsonism
Objective: A 38 year old Australian florist of Anglo-Celtic origin described two years of difficulty using his right hand with associated sensory disturbance attributed initially…Clinico-genetic correlation in Indian Spinocerebellar ataxia Type 1 (SCA1) patients
Objective: To conduct a clinical and genetic analysis of SCA 1 in Indian population. Background: Spinocerebellar ataxia type1 (SCA1) is a neurodegenerative disease caused by…Rare ADCY6 variants in two families with cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS)
Objective: To reveal a genetic cause for a syndrome of combined cerebellar ataxia, neuropathy and vestibular areflexia (CANVAS). Background: CANVAS is a clinically defined neurological…A new distinct spastic ataxia with hypomyelination: Clinical, neuroimaging and molecular expression of NKX6-2 mutations
Objective: To identify the phenotypic, neuroimaging and genotype-phenotype expression of NKX6-2 mutations. Background: Despite advances in genetic testing a large number of hyopomyelinating disorders remain…Clinical and Molecular Characterization of a Family with Ataxia with Oculomotor Apraxia Type 2
Objective: To describe a consanguineous family with ataxia with oculomotor apraxia, type II (AOA2). Background: AOA2 is an autosomal recessive neurodegenerative syndrome leading to progressive…Epigenetic silencing in the humanized mouse model of Friedreich ataxia
Objective: To investigate if DNA hypermethylation of the abnormal FXN gene in Friedreich ataxia is present in disease-relevant tissues and if it is tissue-, repeat-,…Identification of modifiers of the age of onset variance and disease progression in a Dutch cohort of Machado-Joseph disease patients
Objective: In this project, we aim to establish correlations between the length of the CAGexp, AO, and disease progression based on International Cooperative Ataxia Rating…Compound-heterozygous mutations in VPS13D are a novel cause of spastic ataxia and lead to mitochondrial dysfunction
Objective: To identify the genetic cause in two sisters with spastic ataxia and to functionally characterize mitochondrial function in patient-derived cells. Background: Spastic ataxia is…Gluten sensitivity in progressive cerebellar ataxia patients from India
Objective: To screened a well-defined cohort of patients with cerebellar ataxia for the presence of gluten sensitivity. Background: Cerebellar ataxia is a heterogeneous group of…Expanding the clinical phenotype of autosomal recessive spinocerebellar ataxia with Adult onset; a collection of case series
Objective: We present a case series of adult onset ataxia with variability in genetic mutations, yet common clinical phenotypic presentations that constitute the autosomal recessive…
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