ArticleJournal of neuropathology and experimental neurology2015
Friedreich ataxia: failure of GABA-ergic and glycinergic synaptic transmission in the dentate nucleus.
Article in Journal of neuropathology and experimental neurology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 29 citations in OpenAlex.
- Frataxin deficiency and the pathology of Friedreich's Ataxia across tissues.Tissue barriers · 2025Review
- New and Emerging Drug and Gene Therapies for Friedreich Ataxia.CNS drugs · 2024Review
- Physiological Recordings of the Cerebellum in Movement Disorders.Cerebellum (London, England) · 2023Review
- Ataxias: Hereditary, Acquired, and Reversible Etiologies.Seminars in neurology · 2023Article
- Skeletal muscle proteome analysis underpins multifaceted mitochondrial dysfunction in Friedreich's ataxia.Frontiers in neuroscience · 2023Article
- Autosomal recessive adult onset ataxia.Journal of neurology · 2022Article
- Frataxin Deficit Leads to Reduced Dynamics of Growth Cones in Dorsal Root Ganglia Neurons of Friedreich's Ataxia YG8sR Model: A Multilinear Algebra Approach.Frontiers in molecular neuroscience · 2022Article
- Mitochondrial and metabolic dysfunction in Friedreich ataxia: update on pathophysiological relevance and clinical interventions.Neuronal signaling · 2021Review
- Future Prospects of Gene Therapy for Friedreich's Ataxia.International journal of molecular sciences · 2021Review
- Central Nervous System Therapeutic Targets in Friedreich Ataxia.Human gene therapy · 2020Review
- Cerebellar cognitive disorder parallels cerebellar motor symptoms in Friedreich ataxia.Annals of clinical and translational neurology · 2020Article
- Multiple mechanisms underpin cerebral and cerebellar white matter deficits in Friedreich ataxia: The IMAGE-FRDA study.Human brain mapping · 2020Article
- Pattern of Cerebellar Atrophy in Friedreich's Ataxia-Using the SUIT Template.Cerebellum (London, England) · 2019Article
- The neuropathology of the adult cerebellum.Handbook of clinical neurology · 2018Review
- Early VGLUT1-specific parallel fiber synaptic deficits and dysregulated cerebellar circuit in the KIKO mouse model of Friedreich ataxia.Disease models & mechanisms · 2017Article
- Early cerebellar deficits in mitochondrial biogenesis and respiratory chain complexes in the KIKO mouse model of Friedreich ataxia.Disease models & mechanisms · 2017Article
- Heart and Nervous System Pathology in Compound Heterozygous Friedreich Ataxia.Journal of neuropathology and experimental neurology · 2017Article
- Lower medulla hypoplasia in Friedreich ataxia: MR Imaging confirmation 140 years later.Journal of neurology · 2017Article
- Purkinje cell injury, structural plasticity and fusion in patients with Friedreich's ataxia.Acta neuropathologica communications · 2016Article
- Dorsal root ganglia in Friedreich ataxia: satellite cell proliferation and inflammation.Acta neuropathologica communications · 2016Article
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
Abstract
Atrophy of large neurons in the dentate nucleus (DN) is an important pathologic correlate of neurologic disability in patients with Friedreich ataxia (FA). Thinning of the DN was quantified in 29 autopsy cases of FA and 2 carriers by measuring the thickness of the gray matter ribbon on stains with anti-glutamic acid decarboxylase, the rate-limiting enzyme in the biosynthesis of γ-amino-butyric acid (GABA). The DN was thinner than normal in all cases of FA, and atrophy correlated inversely with disease duration but not with age at onset or length of the homozygous guanine-adenine-adenine trinucleotide expansions. In 13 of the FA cases, frozen DN tissue was available for assay of frataxin. Dentate nucleus atrophy was more severe when frataxin was very low. Immunohistochemical staining for glutamic acid decarboxylase revealed grumose reaction and preservation of small GABA-ergic neurons in the DN of FA patients. Residual small DN neurons and varicose axons also contained the glycine transporter 2, identifying them as glycinergic. Immunohistochemistry also confirmed severe loss of GABA-A and glycine receptors in the DN with comparable depletion of the receptor-anchoring protein gephyrin. Thus, loss of gephyrin and failure to position GABA-A and glycine receptors correctly may reduce trophic support of large DN neurons and contribute to their atrophy. By contrast, Purkinje cells may escape retrograde atrophy in FA by issuing new axonal sprouts to small surviving DN neurons where they form reparative grumose clusters.
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