ArticleAmerican journal of human genetics2000
Localization of the gene for a novel autosomal recessive neurodegenerative Huntington-like disorder to 4p15.3.
Article in American journal of human genetics, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 1 of them a synthesis that pooled it.
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Who cites it
17 citing papers in PubMed, 1 synthesis or guideline pooled it, 85 citations in OpenAlex.
- Decoding the Alphabet Soup: A Practical Guide to Genetic Testing in Hyperkinetic Movement Disorders.Tremor and other hyperkinetic movements (New York, N.Y.) · 2025Pooled it
- Update on Genetic Chorea.Current neurology and neuroscience reports · 2026Review
- Update on Genetic Chorea.European journal of neurology · 2025Review
- Huntington disease-like 2: insight into neurodegeneration from an African disease.Nature reviews. Neurology · 2024Review
- Differential diagnosis of chorea (guidelines of the German Neurological Society).Neurological research and practice · 2023Article
- Huntington's disease: lessons from prion disorders.Journal of neurology · 2021Article
- ER Stress-Sensor Proteins and ER-Mitochondrial Crosstalk-Signaling Beyond (ER) Stress Response.Biomolecules · 2021Review
- Review of Hereditary and Acquired Rare Choreas.Tremor and other hyperkinetic movements (New York, N.Y.) · 2020Review
- PERK-opathies: An Endoplasmic Reticulum Stress Mechanism Underlying Neurodegeneration.Current Alzheimer research · 2016Review
- 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.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2015Article
- Update on the Non-Huntington's Disease Choreas with Comments on the Current Nomenclature.Tremor and other hyperkinetic movements (New York, N.Y.) · 2012Article
- The gene coding for PGC-1alpha modifies age at onset in Huntington's Disease.Molecular neurodegeneration · 2009Article
- Neuronal intranuclear and neuropil inclusions for pathological assessment of Huntington's disease.Brain pathology (Zurich, Switzerland) · 2007Article
- Exclusion of mutations in the PRNP, JPH3, TBP, ATN1, CREBBP, POU3F2 and FTL genes as a cause of disease in Portuguese patients with a Huntington-like phenotype.Journal of human genetics · 2006Article
- Gene-environment interplay in neurogenesis and neurodegeneration.Neurotoxicity research · 2004Review
- Interpretation of linkage data for a Huntington-like disorder mapping to 4p15.3.American journal of human genetics · 2000Article
- Huntington's Disease, Huntington's Disease Look-Alikes, and Benign Hereditary Chorea: What's New?Movement disorders clinical practiceReview
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Authors and funding
4 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A consanguineous family affected by an autosomal recessive, progressive neurodegenerative Huntington-like disorder, was tested to rule out juvenile-onset Huntington disease (JHD). The disease manifests at approximately 3-4 years and is characterized by both pyramidal and extrapyramidal abnormalities, including chorea, dystonia, ataxia, gait instability, spasticity, seizures, mutism, and intellectual impairment. Brain magnetic resonance imaging (MRI) findings include progressive frontal cortical atrophy and bilateral caudate atrophy. Huntington CAG trinucleotide-repeat analyses ruled out JHD, since all affected individuals had repeat numbers within the normal range. The presence of only four recombinant events (straight theta=.2) between the disease and the Huntington locus in 20 informative meioses suggested that the disease localized to chromosome 4. Linkage was initially achieved with marker D4S2366 at 4p15.3 (LOD 3.03). High-density mapping at the linked locus resulted in homozygosity for markers D4S431 and D4S394, which span a 3-cM region. A maximum LOD score of 4.71 in the homozygous interval was obtained. Heterozygosity at the distal D4S2366 and proximal D4S2983 markers defines the maximum localization interval (7 cM). Multiple brain-related expressed sequence tags (ESTs) with no known disease association exist in the linkage interval. Among the three known genes residing in the linked interval (ACOX3, DRD5, QDPR), the most likely candidate, DRD5, encoding the dopamine receptor D5, was excluded, since all five affected family members were heterozygous for an intragenic dinucleotide repeat. The inheritance pattern and unique localization to 4p15.3 are consistent with the identification of a novel, autosomal recessive, neurodegenerative Huntington-like disorder.
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