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…Prevalence of Huntington’s Disease in Sardinia, Italy
Objective: We have performed a service-based epidemiological analysis extended to the population residing in Sardinia. The socio-cultural isolation of this large Mediterranean island makes genetic…Huntington’s disease: A case review of Sub-Saharan Africans with diverse origins
Objective: To characterise the Huntingtons disease phenotype in Sub-saharan Africans. Background: Huntington’s disease (HD) is a debilitating neurodegenerative illness that leads to diminished cognitive function,…Intermediate CAG repeat length in the HTT gene and comorbidity – The SHAPE Study (Swedish-Huntingtin-Alleles-and-PhenotypE)
Objective: To 1) determine the distribution of CAG repeats of the Huntingtin gene in a Swedish general population sample, 2) explore the phenotype caused by…Huntington’s Disease presenting as sporadic cerebellar ataxia
Objective: To describe a unique case of a woman who presented as a progressive cerebellar ataxia, with no family history of neurological diseases, that after…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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