Spg 11 gene mutation associated autosomal recessive hereditary spastic paraplegia presenting with partially levodopa responsive parkinsonism, stereotypy and cognitive decline.
Objective: To describe a rare case of SPG11 gene mutation associated complex hereditary spastic paraplegia with partially levodopa responsive parkinsonism Background: Hereditary Spastic Paraplegia (HSP)…Quantitative evaluation of gait ataxia by triaxial accelerometers is more sensitive than SARA within 1.5 years.
Objective: An appropriate biomarker for spinocerebellar degeneration (SCD) is needed. Background: Previously we reported that the average amplitude of medial-lateral of straight gait gained by…Frequency of GBA1 and LRRK2 G2019S mutations, and body mass index in Ashkenazi Jews
Objective: To evaluate the frequency and characteristics of parkinsonism and Parkinson's disease (PD) attributable to LRRK2 G2019S and Glucocerebrosidase1 (GBA1) mutations in Ashkenazi Jewish (AJ)…Clinical and genetic analyses in a cohort of the Taiwanese patients with apparently sporadic pure spastic paraplegia
Objective: To systemically screen some common spastic paraplegia genes (SPG) in the Taiwanese patients with apparently sporadic pure spastic paraplegia. Background: Hereditary spastic paraplegias (HSP)…A novel phenotype associated with GRN mutations: Spastic ataxia
Objective: We report a patient with Spastic Ataxia caused by new homozygous mutations in the GRN gene. Background: The gene GRN located on chromosome 17…A rare genetic transcriptomopathy syndrome involving TAF1 leading to insights into more common neurologic disorders, including X-linked dystonia-parkinsonism (XDP)
Objective: We set out to discover the genetic basis of an X-linked genetic syndrome presenting with global developmental delay, intellectual disability, characteristic facial dysmorphology, generalized…Genetic Identification of early-onset parkinsonism among Norwegian patients
Objective: To investigate the genetic etiology of early-onset (AAO > 45 Years) parkinsonism. Background: Parkinsonism is a neurological syndrome characterized by resting tremor, rigidity, bradykinesia…Transient parkinsonism during pregnancy in patient heterozygous for Gaucher’s disease: Case report
Objective: To present a case of a woman who became transient Parkinsonian during pregnancy and found to have a rare genetic mutation and describe response…Coding and non-coding glucocerebrosidase variants have an impact on cognitive decline in Parkinson’s disease
Objective: To evaluate the impact of genetic variants in the Glucocerebrosidase gene (GBA) on cognitive impairment in a large cohort of Parkinson's disease (PD) patients…Levodopa-responsive hereditary spastic paraplegia, SPG35, due to FA2H mutations in siblings
Objective: To describe FA2H mutations, one novel, in siblings with SPG35 with symptoms responsive to levodopa. Background: Hereditary spastic paraplegia (HSP) is a phenotypically and…
- « Previous Page
- 1
- …
- 5
- 6
- 7
- 8
- Next Page »