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…Cerebellar Ataxia in Patients with Huntington’s Disease, an underestimated symptom?
Objective: To analyze the prevalence of cerebellar ataxia in patients with Huntington’s Disease (HD), both early and late on HD progression and correlating the degree…Clinical and imaging characteristics of manifest LRRK2 and GBA carriers: The PPMI cohort
Objective: To compare baseline clinical and imaging characteristics of the GBA and LRRK2 PD manifest cohorts to PD sporadic (sPD) cohort. Background: The phenotype and…Homozygous Huntington’s disease with two reduced penetrance alleles: A Case Report
Objective: To clinically characterize a Huntington's disease patient with two reduced penetrance alleles. Background: Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder manifesting with…Clinical and imaging characteristics of non-manifest LRRK2 and GBA carriers: The PPMI cohort
Objective: To examine baseline clinical and dopamine transporter (DAT) imaging characteristics in a cohort of non-manifest carriers (NMC) of GBA and LRRK2 compared to healthy…Exploring the effects of intrastriatal AAV5-miHTT therapy on MRS signal and mutant huntingtin levels in the Q175FDN mouse model of HD
Objective: To assess the effects of intrastriatal AAV5-miHTT therapy on MRS signal and mutant huntingtin levels in the Q175FDN mouse model of HD. Background: Huntingtin…The Genetic Landscape of Complex Childhood-Onset Hyperkinetic Movement Disorders
Objective: To better delineate the genetic landscape and key clinical characteristics that define complex early onset monogenic hyperkinetic movement disorders (HMD). Background: Hyperkinetic movement disorders…Generalized chorea in a patient with isolated leukocytosis and JAK2V617F mutation: A case report
Objective: To describe late-onset generalized chorea in a patient found to have the JAK2V617F mutation without polycythemia vera. Background: Polycythemia vera (PV) is well-known to…Benign hereditary chorea with nocturnal dyskinesias
Objective: To describe a case of NKX2-1 mutation presenting with nocturnal hyperkinetic movements. Background: NKX-2-1 mutation is associated with benign hereditary chorea, respiratory distress in…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…
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