ArticleAmerican journal of human genetics2015
Mutations in HPCA cause autosomal-recessive primary isolated dystonia.
Article in American journal of human genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
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Who cites it
29 citing papers in PubMed, 99 citations in OpenAlex.
- Striatal cell-type-specific molecular signatures reveal potential therapeutic targets in a model of dystonia.Neurobiology of disease · 2025Article
- Pediatric Genetic Dystonias: Current Diagnostic Approaches and Treatment Options.Life (Basel, Switzerland) · 2025Review
- Article
- Joint Screening for Ultra-High Dimensional Multi-Omics Data.Bioengineering (Basel, Switzerland) · 2024Article
- Pallidal Deep Brain Stimulation Improves HPCA-Linked (DYT 2) Dystonia.Movement disorders clinical practice · 2024Article
- The expanding genetic landscape of myoclonus-dystonia syndrome: YY1 and ATP1A3 are added to the list.Parkinsonism & related disorders · 2023Article
- Dystonias: Clinical Recognition and the Role of Additional Diagnostic Testing.Seminars in neurology · 2023Article
- Childhood-Onset Choreo-Dystonia Due to a Recurrent Novel Homozygous NonsenseMovement disorders clinical practice · 2023Review
- Benign Hereditary Chorea as a Manifestation of HPCA Mutation.Movement disorders clinical practice · 2023Article
- Classification of Dystonia.Life (Basel, Switzerland) · 2022Review
- Isolated dystonia: clinical and genetic updates.Journal of neural transmission (Vienna, Austria : 1996) · 2021Review
- Genetic Dystonias: Update on Classification and New Genetic Discoveries.Current neurology and neuroscience reports · 2021Review
- Dystonia genes functionally converge in specific neurons and share neurobiology with psychiatric disorders.Brain : a journal of neurology · 2020Article
- Serum calcium, magnesium, phosphorus, and vitamin D in benign essential blepharospasm.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2020Article
- Calcium Sensors in Neuronal Function and Dysfunction.Cold Spring Harbor perspectives in biology · 2019Review
- Article
- Naming Genes for Dystonia: DYT-z or Ditzy?Tremor and other hyperkinetic movements (New York, N.Y.) · 2019Article
- NGS Technologies as a Turning Point in Rare Disease Research , Diagnosis and Treatment.Current medicinal chemistry · 2018Review
- Recent advances in understanding and managing dystonia.F1000Research · 2018Review
- Identification of a novel genetic locus underlying tremor and dystonia.Human genomics · 2017Article
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Authors and funding
9 authors at 3 institutions in 3 countries.
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Abstract
Reports of primary isolated dystonia inherited in an autosomal-recessive (AR) manner, often lumped together as "DYT2 dystonia," have appeared in the scientific literature for several decades, but no genetic cause has been identified to date. Using a combination of homozygosity mapping and whole-exome sequencing in a consanguineous kindred affected by AR isolated dystonia, we identified homozygous mutations in HPCA, a gene encoding a neuronal calcium sensor protein found almost exclusively in the brain and at particularly high levels in the striatum, as the cause of disease in this family. Subsequently, compound-heterozygous mutations in HPCA were also identified in a second independent kindred affected by AR isolated dystonia. Functional studies suggest that hippocalcin might play a role in regulating voltage-dependent calcium channels. The identification of mutations in HPCA as a cause of AR primary isolated dystonia paves the way for further studies to assess whether "DYT2 dystonia" is a genetically homogeneous condition or not.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.