SPG7 mutation - Novel phenotypic presentation mimicking idiopathic Parkinson's disease.

Autor: Madhavi K; Department of Parkinson's and Movement Disorders Research Centre (PDMDRC), Citi Neuro Centre, Banjara Hills, Hyderabad, Telangana, India., Mridula Kandadai R; Department of Parkinson's and Movement Disorders Research Centre (PDMDRC), Citi Neuro Centre, Banjara Hills, Hyderabad, Telangana, India., Kola S; Department of Parkinson's and Movement Disorders Research Centre (PDMDRC), Citi Neuro Centre, Banjara Hills, Hyderabad, Telangana, India., Borgohain R; Department of Parkinson's and Movement Disorders Research Centre (PDMDRC), Citi Neuro Centre, Banjara Hills, Hyderabad, Telangana, India., Alugolu R; Department of Parkinson's and Movement Disorders Research Centre (PDMDRC), Citi Neuro Centre, Banjara Hills, Hyderabad, Telangana, India., Prasad V; Department of Parkinson's and Movement Disorders Research Centre (PDMDRC), Citi Neuro Centre, Banjara Hills, Hyderabad, Telangana, India.
Jazyk: angličtina
Zdroj: Clinical parkinsonism & related disorders [Clin Park Relat Disord] 2024 Nov 13; Vol. 11, pp. 100280. Date of Electronic Publication: 2024 Nov 13 (Print Publication: 2024).
DOI: 10.1016/j.prdoa.2024.100280
Abstrakt: • SPG7 mutations can present as asymmetric parkinsonism mimicking idiopathic Parkinson's disease,• SPG7 mutation must be considered in Early onset Parkinson's disease even with a negative family history.•Parkinsonism with SPG7 mutations has shown good to moderate response to dopamine.
Competing Interests: The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.
(© 2024 The Author(s).)
Databáze: MEDLINE