Paroxysmal movement disorders encompass varied motor phenomena. Less recognized features and wide phenotypic and genotypic heterogeneity are impediments to straightforward molecular diagnosis. We describe a family with episodic ataxia type 1, initially mis‐characterized as paroxysmal dystonia to illustrate this diagnostic challenge. We summarize clinical features in affected individuals to highlight underappreciated aspects and provide comprehensive phenotypic description of the rare familial KCNA1 mutation. Delayed diagnosis in this family is emblematic of the broader challenge of diagnosing other paroxysmal motor disorders. We summarize genotypic and phenotypic overlap and provide a suggested diagnostic algorithm for approaching patients with these conditions.

Paroxysmal motor disorders. expanding phenotypes lead to coalescing genotypes / Zima, Laura; Ceulemans, Sophia; Reiner, Gail; Galosi, Serena; Chen, Dillon; Sahagian, Michelle; Haas, Richard H.; Hyland, Keith; Friedman, Jennifer. - In: ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY. - ISSN 2328-9503. - 5:8(2018), pp. 996-1010. [10.1002/acn3.597]

Paroxysmal motor disorders. expanding phenotypes lead to coalescing genotypes

Galosi, Serena;
2018

Abstract

Paroxysmal movement disorders encompass varied motor phenomena. Less recognized features and wide phenotypic and genotypic heterogeneity are impediments to straightforward molecular diagnosis. We describe a family with episodic ataxia type 1, initially mis‐characterized as paroxysmal dystonia to illustrate this diagnostic challenge. We summarize clinical features in affected individuals to highlight underappreciated aspects and provide comprehensive phenotypic description of the rare familial KCNA1 mutation. Delayed diagnosis in this family is emblematic of the broader challenge of diagnosing other paroxysmal motor disorders. We summarize genotypic and phenotypic overlap and provide a suggested diagnostic algorithm for approaching patients with these conditions.
2018
paroxysmal motor disorders
01 Pubblicazione su rivista::01a Articolo in rivista
Paroxysmal motor disorders. expanding phenotypes lead to coalescing genotypes / Zima, Laura; Ceulemans, Sophia; Reiner, Gail; Galosi, Serena; Chen, Dillon; Sahagian, Michelle; Haas, Richard H.; Hyland, Keith; Friedman, Jennifer. - In: ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY. - ISSN 2328-9503. - 5:8(2018), pp. 996-1010. [10.1002/acn3.597]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/1227256
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