Cerebellar ataxia and cutaneous lesions: a clinical case
Objective: Highlight the complex differential diagnosis of ataxia in a patient with cutaneous lesions. Background: Cerebellar ataxias may accompany neurocutaneous syndromes. XP is a rare…Research on the modifier gene of Hereditary spinocerebellar ataxia type 2
Objective: To investigate the influence of CAG trinucleotides repeat of some (CAG)n-containing gene and some gene polymorphisms in AO of SCA2, and analyse the difference…Ataxia with(out) oculomotor apraxia: A unique SETX mutation in 3 siblings
Objective: Ataxia with oculomotor apraxia type 2 (AOA2) is an autosomal recessive cerebellar ataxia due to SETX gene mutation characterized by progressive cerebellar atrophy, neuropathy,…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…Novel CACNA1A gene mutation in a Taiwan family with episodic ataxia type 2
Objective: To illustrate a family of episodic ataxia type 2 with atypical presentations and a novel mutation of CACNA1A gene Background: The episodic ataxias (EAs)…Does Niemann Pick Type C heterozygosity predispose to late-onset neurodegeneration?
Objective: Do single NPC1 or NPC2 mutation also predispose to late-onset neurodegeneration, e. g. PD or dementia? Background: Niemann-Pick type C (NPC) is an autosomal…Case of Friedreich’s ataxia with extremely large repeat expansion without systemic disease
Objective: To describe a case of Friedreich’s ataxia with >1700 GAA repeats but no systemic manifestations despite long disease course. Background: Fredrich’s ataxia (FA) is…Diagnostic tips from a case series of patients with Late Onset Tay Sachs disease
Objective: To describe a population of eight patients with Late Onset Tay Sachs (LOTS) disease and offer tips to aid in diagnosing this rare condition.…
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