ArticleAmerican journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics2015
Junctophilin 3 (JPH3) expansion mutations causing Huntington disease like 2 (HDL2) are common in South African patients with African ancestry and a Huntington disease phenotype.
Article in American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 1 of them a synthesis that pooled it.
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Who cites it
26 citing papers in PubMed, 1 synthesis or guideline pooled it, 55 citations in OpenAlex.
- Current knowledge of Huntington's disease-like 2 genetic testing, clinical presentation, and patient experiences: A systematic review.Journal of Huntington's disease · 2026Pooled it
- Founder mutations in movement disorders: global distribution, molecular mechanisms, and clinical consequences-a scoping review.Neurogenetics · 2026Article
- Huntington's Disease and Huntington's Disease-like 2 (HDL2) in Martinique.Movement disorders clinical practice · 2026Article
- Exosomes as Biomarkers and Therapeutic Agents in Neurodegenerative Diseases: Current Insights and Future Directions.Molecular neurobiology · 2025Review
- An exploration of the genetics of the mutant Huntingtin (mHtt) gene in a cohort of patients with chorea from different ethnic groups in sub-Saharan Africa.Annals of human genetics · 2025Article
- Analysis and benchmarking of small and large genomic variants across tandem repeats.Nature biotechnology · 2025Article
- Membrane Curvature Promotes ER-PM Contact Formation via Junctophilin-EHD Interactions.bioRxiv : the preprint server for biology · 2024Article
- Structure, Function, and Regulation of the Junctophilin Family.Annual review of physiology · 2024Review
- Huntington disease-like 2: insight into neurodegeneration from an African disease.Nature reviews. Neurology · 2024Review
- Endoplasmic Reticulum Membrane Contact Sites, Lipid Transport, and Neurodegeneration.Cold Spring Harbor perspectives in biology · 2023Review
- Could Africa be the future for genomics research?Nature · 2023Article
- A case of Huntington disease-like 2 in a patient of African ancestry: the everlasting support of clinical examination in the molecular era.Clinical case reports · 2022Article
- The role of junctophilin proteins in cellular function.Physiological reviews · 2022Review
- Huntington's disease: lessons from prion disorders.Journal of neurology · 2021Article
- Tracing the mutated HTT and haplotype of the African ancestor who spread Huntington disease into the Middle East.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
- Single case-control design for the study of the neuropsychological deficits and dissociations in Huntington's disease-like 2.MethodsX · 2020Article
- Comparison of the Huntington's Disease like 2 and Huntington's Disease Clinical Phenotypes.Movement disorders clinical practice · 2019Article
- Emerging differences between Huntington's disease-like 2 and Huntington's disease: A comparison using MRI brain volumetry.NeuroImage. Clinical · 2019Article
- Genetics of Movement Disorders and the Practicing Clinician; Who and What to Test for?Current neurology and neuroscience reports · 2018Review
- Clinical Application of Epilepsy Genetics in Africa: Is Now the Time?Frontiers in neurology · 2018Article
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9 authors at 7 institutions in 4 countries.
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Abstract
Huntington disease (HD) is a progressive autosomal dominant neurodegenerative disorder, characterized by abnormal movements, cognitive decline, and psychiatric symptoms, caused by a CAG repeat expansion in the huntingtin (HTT) gene on chromosome 4p. A CAG/CTG repeat expansion in the junctophilin-3 (JPH3) gene on chromosome 16q24.2 causes a Huntington disease-like phenotype (HDL2). All patients to date with HDL2 have some African ancestry. The present study aimed to characterize the genetic basis of the Huntington disease phenotype in South Africans and to investigate the possible origin of the JPH3 mutation. In a sample of unrelated South African individuals referred for diagnostic HD testing, 62% (106/171) of white patients compared to only 36% (47/130) of black patients had an expansion in HTT. However, 15% (20/130) of black South African patients and no white patients (0/171) had an expansion in JPH3, confirming the diagnosis of Huntington disease like 2 (HDL2). Individuals with HDL2 share many clinical features with individuals with HD and are clinically indistinguishable in many cases, although the average age of onset and diagnosis in HDL2 is 5 years later than HD and individual clinical features may be more prominent. HDL2 mutations contribute significantly to the HD phenotype in South Africans with African ancestry. JPH3 haplotype studies in 31 families, mainly from South Africa and North America, provide evidence for a founder mutation and support a common African origin for all HDL2 patients. Molecular testing in individuals with an HD phenotype and African ancestry should include testing routinely for JPH3 mutations.
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