Inherited Dystonias

Philippe A. Salles; Ximena P. Pizarro; José M. Tirapegui

doi:10.1016/B978-0-323-95702-1.00194-9

Inherited Dystonias

Philippe A. Salles
, Ximena P. Pizarro
, José M. Tirapegui

Research output: Chapter in Book/Report/Conference proceeding › Chapter › peer-review

Abstract

Dystonia is the main or accompanying symptom in many genetic disorders with complex molecular pathophysiology. So far, more than fifty genetic disorders have been listed as causes of monogenic dystonia, manifesting as isolated, combined, or complex forms of dystonia. Besides, many anecdotal gene-dystonia links have been reported. A systematized approach based on phenomenology and proper selection of diagnostic tools is essential to guide the clinician in the identification of the potential genetic disorder responsible for dystonia in individual cases. This article provides an overview of the molecular and clinical features of the most common dystonia monogenic disorders.

Original language	English
Title of host publication	Encyclopedia of the Neurological Sciences
Publisher	Elsevier
Pages	V2:191-V2:217
ISBN (Electronic)	9780323957021
ISBN (Print)	9780323957052
DOIs	https://doi.org/10.1016/B978-0-323-95702-1.00194-9
State	Published - 1 Jan 2025

Bibliographical note

Publisher Copyright:
© 2025 Elsevier Inc. All rights are reserved, including those for text and data mining, AI training, and similar technologies.

Keywords

ADCY5
ANO3
ATP1A3
Dystonia
GCH1
GNAL
KCTD17
KMT2B
Movement disorders
Myoclonus
Parkinsonism
SGCE
THAP1
TOR1A
TUBB4A

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10.1016/B978-0-323-95702-1.00194-9

Cite this

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AU - Tirapegui, José M.

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KW - KMT2B

KW - Movement disorders

KW - Myoclonus

KW - Parkinsonism

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KW - THAP1

KW - TOR1A

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BT - Encyclopedia of the Neurological Sciences

PB - Elsevier

ER -

Inherited Dystonias

Abstract

Bibliographical note

Keywords

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