Disorders of Upper Limb Movements in Ataxia-Telangiectasia.

Ataxia-telangiectasia is known for cerebellar degeneration, but clinical descriptions of abnormal tone, posture, and movements suggest involvement of the network between cerebellum and basal ganglia. We quantitatively assessed the nature of upper-limb movement disorders in ataxia-telangiectasia. We...

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Main Authors: Aasef G Shaikh, David S Zee, Allen S Mandir, Howard M Lederman, Thomas O Crawford
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2013-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC3694953?pdf=render
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spelling doaj-2fdb2f7bc9a248f1b2e0ae3ffc3341d52020-11-25T00:02:10ZengPublic Library of Science (PLoS)PLoS ONE1932-62032013-01-0186e6704210.1371/journal.pone.0067042Disorders of Upper Limb Movements in Ataxia-Telangiectasia.Aasef G ShaikhDavid S ZeeAllen S MandirHoward M LedermanThomas O CrawfordAtaxia-telangiectasia is known for cerebellar degeneration, but clinical descriptions of abnormal tone, posture, and movements suggest involvement of the network between cerebellum and basal ganglia. We quantitatively assessed the nature of upper-limb movement disorders in ataxia-telangiectasia. We used a three-axis accelerometer to assess the natural history and severity of abnormal upper-limb movements in 80 ataxia-telangiectasia and 19 healthy subjects. Recordings were made during goal-directed movements of upper limb (kinetic task), while arms were outstretched (postural task), and at rest. Almost all ataxia-telangiectasia subjects (79/80) had abnormal involuntary movements, such as rhythmic oscillations (tremor), slow drifts (dystonia or athetosis), and isolated rapid movements (dystonic jerks or myoclonus). All patients with involuntary movements had both kinetic and postural tremor, while 48 (61%) also had resting tremor. The tremor was present in transient episodes lasting several seconds during two-minute recording sessions of all three conditions. Percent time during which episodic tremor was present was greater for postural and kinetic tasks compared to rest. Resting tremor had higher frequency but smaller amplitude than postural and kinetic tremor. Rapid non-rhythmic movements were minimal during rest, but were triggered during sustained arm postures and goal directed arm movements suggesting they are best considered a form of dystonic jerks or action myoclonus. Advancing age did not correlate with the severity of involuntary limb movements. Abnormal upper-limb movements in ataxia-telangiectasia feature classic cerebellar impairment, but also suggest involvement of the network between the cerebellum and basal ganglia.http://europepmc.org/articles/PMC3694953?pdf=render
collection DOAJ
language English
format Article
sources DOAJ
author Aasef G Shaikh
David S Zee
Allen S Mandir
Howard M Lederman
Thomas O Crawford
spellingShingle Aasef G Shaikh
David S Zee
Allen S Mandir
Howard M Lederman
Thomas O Crawford
Disorders of Upper Limb Movements in Ataxia-Telangiectasia.
PLoS ONE
author_facet Aasef G Shaikh
David S Zee
Allen S Mandir
Howard M Lederman
Thomas O Crawford
author_sort Aasef G Shaikh
title Disorders of Upper Limb Movements in Ataxia-Telangiectasia.
title_short Disorders of Upper Limb Movements in Ataxia-Telangiectasia.
title_full Disorders of Upper Limb Movements in Ataxia-Telangiectasia.
title_fullStr Disorders of Upper Limb Movements in Ataxia-Telangiectasia.
title_full_unstemmed Disorders of Upper Limb Movements in Ataxia-Telangiectasia.
title_sort disorders of upper limb movements in ataxia-telangiectasia.
publisher Public Library of Science (PLoS)
series PLoS ONE
issn 1932-6203
publishDate 2013-01-01
description Ataxia-telangiectasia is known for cerebellar degeneration, but clinical descriptions of abnormal tone, posture, and movements suggest involvement of the network between cerebellum and basal ganglia. We quantitatively assessed the nature of upper-limb movement disorders in ataxia-telangiectasia. We used a three-axis accelerometer to assess the natural history and severity of abnormal upper-limb movements in 80 ataxia-telangiectasia and 19 healthy subjects. Recordings were made during goal-directed movements of upper limb (kinetic task), while arms were outstretched (postural task), and at rest. Almost all ataxia-telangiectasia subjects (79/80) had abnormal involuntary movements, such as rhythmic oscillations (tremor), slow drifts (dystonia or athetosis), and isolated rapid movements (dystonic jerks or myoclonus). All patients with involuntary movements had both kinetic and postural tremor, while 48 (61%) also had resting tremor. The tremor was present in transient episodes lasting several seconds during two-minute recording sessions of all three conditions. Percent time during which episodic tremor was present was greater for postural and kinetic tasks compared to rest. Resting tremor had higher frequency but smaller amplitude than postural and kinetic tremor. Rapid non-rhythmic movements were minimal during rest, but were triggered during sustained arm postures and goal directed arm movements suggesting they are best considered a form of dystonic jerks or action myoclonus. Advancing age did not correlate with the severity of involuntary limb movements. Abnormal upper-limb movements in ataxia-telangiectasia feature classic cerebellar impairment, but also suggest involvement of the network between the cerebellum and basal ganglia.
url http://europepmc.org/articles/PMC3694953?pdf=render
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