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- Title
Autosomal Recessive Cerebellar Ataxias: New Acronyms, Old Eponyms, and the Butterfly Life Cycle.
- Authors
Teive, Hélio A.G.; Coutinho, Léo; Meira, Alex T.; Franklin, Gustavo L.; Camargo, Carlos Henrique F.; Munhoz, Renato Puppi
- Abstract
Keywords: autosomal recessive cerebellar ataxias; movement disorders; cerebellum; ataxia EN autosomal recessive cerebellar ataxias movement disorders cerebellum ataxia 1297 1301 5 09/29/23 20230901 NES 230901 Autosomal recessive cerebellar ataxias (ARCAs) encompass a heterogeneous group of rare degenerative and metabolic genetic diseases that may affect the cerebellum or its connections.[[1], [3]] The pathophysiological mechanisms of these conditions can be related to dysfunction of mitochondrial metabolism (eg, Friedreich ataxia [FA] and autosomal recessive spastic ataxia of Charlevoix-Saguenay [ARSACS]) of DNA repair/genome stability (eg, ataxia telangiectasia [A-T] and ataxia with oculomotor apraxia) or complex lipid metabolism (eg, cerebrotendinous xanthomatosis [CTX] and patatin-like phospholipase domain-containing protein 6 [ I PNPLA6 i ]-related disorders).[[1], [3]] The inclusion of this wide variety of disorders that may carry their own inter- and intrafamilial variability may lead to further phenotypical pleomorphism, as observed in hereditary neurological diseases, particularly those linked to movement disorders. Ataxia-telangiectasia; a familial syndrome of progressive cerebellar ataxia, oculocutaneous telangiectasia and frequent pulmonary infection. Autosomal recessive cerebellar ataxias, movement disorders, cerebellum, ataxia Different cerebellar ataxia phenotypes associated with mutations of the PNPLA6 gene in Brazilian patients with recessive ataxias.
- Subjects
CEREBELLUM degeneration; SPINOCEREBELLAR ataxia; LIFE cycles (Biology); FRIEDREICH'S ataxia; GENETIC disorders; CHARCOT-Marie-Tooth disease; SYMPTOMS
- Publication
Movement Disorders Clinical Practice, 2023, Vol 10, Issue 9, p1297
- ISSN
2330-1619
- Publication type
Article
- DOI
10.1002/mdc3.13835