ArticleBrain : a journal of neurology2018
GDAP2 mutations implicate susceptibility to cellular stress in a new form of cerebellar ataxia.
Article in Brain : a journal of neurology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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18 citing papers in PubMed, 25 citations in OpenAlex.
- How Early Should I Refer My Patient? The Benefits of a Quick Ophthalmic Referral in Spinocerebellar Ataxias, a Case Series and Literature Review.Brain sciences · 2026Article
- Wings of Discovery: UsingCells · 2025Review
- Autosomal Recessive Cerebellar Ataxia-27 Caused by a Novel Loss-of-Function Variant of Ganglioside-Induced Differentiation Associated Protein 2 in a Spanish Family.Neurology. Genetics · 2025Article
- CRISPR/Cas9-Mediated Knockout ofInsects · 2025Article
- Defined culture conditions robustly maintain human stem cell pluripotency, highlighting a role for CaCommunications biology · 2025Article
- Functional unknomics: Systematic screening of conserved genes of unknown function.PLoS biology · 2023Article
- Isolated Dystonia as an Initial Presentation of GDAP2-Related Disorder.Movement disorders clinical practice · 2023Article
- Ataxia-associated DNA repair genes protect theFrontiers in neural circuits · 2023Article
- Comparative Silk Transcriptomics Illuminates Distinctive Impact of Artificial Selection in Silkworm Modern Breeding.Insects · 2022Article
- Tachykinin-related peptides modulate immune-gene expression in the mealworm beetle Tenebrio molitor L.Scientific reports · 2022Article
- BOD1 regulates the cerebellar IV/V lobe-fastigial nucleus circuit associated with motor coordination.Signal transduction and targeted therapy · 2022Article
- MRI CNS Atrophy Pattern and the Etiologies of Progressive Ataxias.Tomography (Ann Arbor, Mich.) · 2022Review
- Autosomal recessive adult onset ataxia.Journal of neurology · 2022Article
- Article
- A homozygous GDAP2 loss-of-function variant in a patient with adult-onset cerebellar ataxia.Brain : a journal of neurology · 2020Article
- Reply: A homozygous GDAP2 loss-of-function variant in a patient with adult-onset cerebellar ataxia; and Novel GDAP2 pathogenic variants cause autosomal recessive spinocerebellar ataxia-27 (SCAR27) in a Chinese family.Brain : a journal of neurology · 2020Article
- The Classification of Autosomal Recessive Cerebellar Ataxias: a Consensus Statement from the Society for Research on the Cerebellum and Ataxias Task Force.Cerebellum (London, England) · 2019Review
- ADP-ribosylation signalling and human disease.Open biology · 2019Review
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11 authors at 6 institutions in 4 countries.
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Abstract
Autosomal recessive cerebellar ataxias are a group of rare disorders that share progressive degeneration of the cerebellum and associated tracts as the main hallmark. Here, we report two unrelated patients with a new subtype of autosomal recessive cerebellar ataxia caused by biallelic, gene-disruptive mutations in GDAP2, a gene previously not implicated in disease. Both patients had onset of ataxia in the fourth decade. Other features included progressive spasticity and dementia. Neuropathological examination showed degenerative changes in the cerebellum, olive inferior, thalamus, substantia nigra, and pyramidal tracts, as well as tau pathology in the hippocampus and amygdala. To provide further evidence for a causative role of GDAP2 mutations in autosomal recessive cerebellar ataxia pathophysiology, its orthologous gene was investigated in the fruit fly Drosophila melanogaster. Ubiquitous knockdown of Drosophila Gdap2 resulted in shortened lifespan and motor behaviour anomalies such as righting defects, reduced and uncoordinated walking behaviour, and compromised flight. Gdap2 expression levels responded to stress treatments in control flies, and Gdap2 knockdown flies showed increased sensitivity to deleterious effects of stressors such as reactive oxygen species and nutrient deprivation. Thus, Gdap2 knockdown in Drosophila and GDAP2 loss-of-function mutations in humans lead to locomotor phenotypes, which may be mediated by altered responses to cellular stress.
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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.