Chorea and Ataxia as Manifestations of Xeroderma Pigmentosum: A Case Report
Objective: To report a case of a 51-year-old woman with recurrent basal cell carcinoma, severe photosensitivity, and progressive chorea and ataxia caused by xeroderma pigmentosum…Multi-tiered Diagnostic Approaches Reveal a High Degree of Genetic Heterogeneity for Hereditary Cerebellar Ataxias: A Retrospective Review of an Australian Cohort
Objective: A retrospective review of the genetic spectrum in an Australian cohort of hereditary cerebellar ataxia (HCA), as well as evaluating HCA’s testing modalities at…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…Clinical and genetic analysis of ataxic patients with CACNA1A mutations in Taiwan
Objective: To study the clinical presentation of ataxic patients with CACNA1A mutations in a Taiwanese cohort. Background: Mutations of CACNA1A gene is the genetic cause…Genotype-Phenotype correlations and expansion of the molecular spectrum of AP4M1-related Hereditary Spastic Paraplegia
Objective: To identify possible novel variants in a HSP family from Greece. Background: Autosomal recessive hereditary spastic paraplegia (HSP) due to AP4M1 mutations is a…Ataxia and increased cerebrospinal fluid phosphate associated with a mutation in the SLC20A2 gene
Objective: To characterize the phenotype and biochemical abnormalities associated with the R467X mutation in the SLCA20A2 gene. Background: Mutations in the SLC20A2 gene are the…Efficacy of miglustat in Korean patients with Niemann-Pick disease type C
Objective: The first two Korean patients in siblings of adolescent/adult onset NP-C were evaluated for the efficacy of miglustat. Background: Niemann-Pick disease type C (NP-C)…Perrault syndrome: CLPP-Knock-Out mouse brain shows accumulation of mitoribosomes
Objective: We aimed to document the alterations of pathways and molecules that underlie brain pathology in the Perrault syndrome. Background: Perrault syndrome is an autosomal…SPG7 related spastic ataxia differs according to the presence of the A510V variant
Objective: To characterize phenotype-genotype correlation in patients with two SPG7 variants, supported by a post mortem study. Background: The SPG7 gene was the first identified…Induced pluripotent stem cells based in-vitro modelling of Spinocerebellar Ataxia type -12 (SCA-12).
Objective: To derive neuronal lineages from patient’s peripheral blood mononuclear cells (PBMCs) and exploration of disease biology. Background: Spinocerebellar ataxia type-12 (SCA-12) is a progressive cerebellar…
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