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X‐Linked Parkinsonism: Phenotypic and Genetic Heterogeneity by Giulia Di Lazzaro; Francesca Magrinelli; Carlos Estevez‐Fraga; Enza M. Valente; Antonio Pisani; Kailash P. Bhatia is a Medicine article available to read on EtoBox.

What is X‐Linked Parkinsonism: Phenotypic and Genetic Heterogeneity about?

X-linked parkinsonism encompasses rare heterogeneous disorders mainly inherited as a recessive trait, therefore being more prevalent in males. Recent developments have revealed a complex underlying panorama, including a spectrum of disorders in which parkinsonism is variably associated with additional neurological and non-neurological signs. In particular, a childhood-onset encephalopathy with epilepsy and/or cognitive disability is the most common feature. Their genetic basis is also heterogeneous, with many causative genes and different mutation types ranging from "classical" coding variants to intronic repeat expansions. In this review, we provide an updated overview of the phenotypic and genetic spectrum of the most relevant X-linked parkinsonian syndromes, namely X-linked dystonia-parkinsonism (XDP, Lubag disease), fragile X-associated tremor/ataxia syndrome (FXTAS), beta-propeller protein-associated neurodegeneration (BPAN, NBIA/PARK-WDR45), Fabry disease, Waisman syndrome, methyl CpG-binding protein 2 (MeCP2) spectrum disorder, phosphoglycerate kinase-1 deficiency syndrome (PGK1) and X-linked parkinsonism and spasticity (XPDS). All clinical and radiological features reported

Who reads X‐Linked Parkinsonism: Phenotypic and Genetic Heterogeneity?

Author

Giulia Di Lazzaro; Francesca Magrinelli; Carlos Estevez‐Fraga; Enza M. Valente; Antonio Pisani; Kailash P. Bhatia

Publisher

Wiley

Published

2021

Language

EN

Field

Medicine (Health Sciences)