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)…Clinical and mutation spectrum of Ataxia with oculomotor apraxia-2: An Indian perspective
Objective: To report clinical and mutation spectrum of AOA2 in Indian population Background: The Autosomal Recessive Cerebellar Ataxias (ARCAs) are less explored in Indian population.…Novel GBA risk factor gene mutation p.W378R in a kindred with Gaucher’s disease and Parkinson’s disease
Objective: We undertook mutation analysis of the Glucocerebrosidase gene (GBA) gene in a large three-generational Australian kindred consisting of some individuals with both type 1…Nucleotide repeats as genetic risk factors in a Swedish Parkinson’s disease cohort
Objective: To search for abnormal NRE in the following genes: ATXN2, ATXN3, CACNA1A, TBP, c9orf72, PRNP, POLG1A and TOMM40 in a Swedish PD cohort. Background:…Research on nearinfrared brain function imaging for Freezing of Gait in Parkinson’s Disease
Objective: In the study ,fNIRS technique was used to study the activation level and activation mode of prefrontal cerebral cortex for patients with FOG under…Chitotriosidase is a biomarker for Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia (ALSP)
Objective: ALSP belongs to the large group of rare neurogenetic, adult-onset leukodystrophies. For most of these leukodystrophies, including ALSP, no causative treatment exists. Biomarkers facilitate…A strategic approach to understand microsatellite repeat loci among Indian spinocerebellar ataxia patients
Objective: To identify novel unstable tandem nucleotide repeat loci in uncharacterized ataxia patients. Background: Microsatellites like tandem nucleotide repeats are of importance to human genome…Сase of myotonic dystrophy
Objective: Myotonic dystrophy (dystrophia myotonica, DM) is the most frequently inherited neuromuscular disease of adult life. Background: Classical DM (DM1) has been identified as an…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…
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