Benign hereditary chorea: A Tunisian family case presentation
Objective: To discuss clinical and genetic characteristics and therapeutic findings in a family with Benign Hereditary Chorea(BFC). Background: Benign hereditary chorea (BHC) is a mild…PNKP deficiency mimicking a benign hereditary chorea: the misleading presentation of a neurodegenerative disorder
Objective: We report on a new case expanding the clinical presentation of PNKP deficiency Background: PNKP gene encodes for a kinase/phosphatase protein involved in DNA…Huntington Disease-Like 2: A Case Presentation and Review of the Literature
Objective: To present a case of Huntington Disease-Like 2 (HDL2). HDL2 is rare and phenotypically similar to Huntington’s Disease (HD). However the gene, chromosome, and…Genetic diagnosis of Chorea-acanthocytosis using whole exome sequencing revealed novel VPS13A Gene mutation
Objective: We hereby report a patient who is genetically confirmed Chorea-acanthocytosis (ChAc). Background: ChAc is a rare autosomal recessive genetic disorder caused by mutation of…Whole Exome Sequencing Identifies a Homozygous POLG2 Missense Variant in an adult patient presenting with movement disorders and Mitochondrial DNA Depletion
Objective: To determine cause of disease in an adult patient with an undiagnosed chronic neurodegenerative disease. Background: POLG2 is a nuclear gene responsible for mtDNA…Gene panel testing in movement disorders: an efficient approach highlighting overlaps and heterogeneity
Objective: Our study aimed at developing a targeted sequencing approach using a customized panel of genes involved in movement disorders (MDs). Background: MDs are characterized…NKX2-1-Related Disorder with Cerebral Folate Deficiency
Objective: To describe a patient with a de novo NKX2-1 mutation and low CSF 5-methyltetrahydrofolate (5MTHF) who had mild improvement in fine motor control after…Neuropathology in a case of HD-like syndrome caused by mutations in RNF216
Objective: To describe the neuropathology in a rare case of autosomal recessive HD like syndrome due to homozygous RNF216 mutations. To confirm the hypothesis of…Gene Expression Profiling of depression in Huntington’s disease
Objective: This preliminary study was designed to investigate the gene expression profile by RNA-seq in HD patients with depression and without depression, and between subjects…MDS Rare Movement Disorders Study Group Global Genetic Testing Survey: exploring the unmet needs
Objective: To better understand access to genetic testing at the international level. Background: One of the objectives of the Rare Diseases Study Group (RDSG) of…
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