MovDisordV3, Main, Exploration, bibRecord, 004F15

Progressive pseudobulbar paresis, early choreiform movements, and later rigidity: Appearance in two sets of dizygotic twins in the same family

Identifieur interne : 004F15 ( Main/Exploration ); précédent : 004F14; suivant : 004F16

Progressive pseudobulbar paresis, early choreiform movements, and later rigidity: Appearance in two sets of dizygotic twins in the same family

Auteurs : Sturla E. Johnson [Norvège] ; Arve Dahl ; Ottar Sjaastad [Norvège]

Source :

Movement Disorders [ 0885-3185 ] ; 1998-05.

RBID : ISTEX:A6647EEC28251C2E990206D13DA1220EFE5A1A2D

Descripteurs français

Pascal (Inist)
- Chorée syndrome, Encéphale, Etude familiale, Homme, Hypertonie spastique, Imagerie RMN, Paralysie pseudobulbaire, Symptomatologie.
Wicri :
- topic : Homme.

English descriptors

KwdEn :
- Acanthocytosis, Adult, Brain (vertebrata), Chorea, Chorea (diagnosis), Chorea (genetics), Choreiform movements, Deglutition Disorders (diagnosis), Deglutition Disorders (genetics), Diseases in Twins (genetics), Dysarthria (diagnosis), Dysarthria (genetics), Family study, Female, Follow-Up Studies, Human, Humans, Male, Muscle Rigidity (diagnosis), Muscle Rigidity (genetics), Nuclear magnetic resonance imaging, Paralysis (diagnosis), Paralysis (genetics), Parkinson Disease, Secondary (diagnosis), Parkinson Disease, Secondary (genetics), Parkinsonism, Pedigree, Pseudobulbar paralysis, Pseudobulbar paresis, Spasticity, Symptomatology, Twins, Twins, Dizygotic (genetics).
MESH :
- diagnosis : Chorea, Deglutition Disorders, Dysarthria, Muscle Rigidity, Paralysis, Parkinson Disease, Secondary.
- genetics : Chorea, Deglutition Disorders, Diseases in Twins, Dysarthria, Muscle Rigidity, Paralysis, Parkinson Disease, Secondary, Twins, Dizygotic.
- Adult, Female, Follow-Up Studies, Humans, Male, Pedigree.

Abstract

In a family with two sets of dizygotic twins, three, possibly all four, siblings were affected by the same disorder. The parents were unrelated and the illness seemed limited to one generation. Onset was in the early to mid‐20s with tics and choreiform movements, dysarthria, and dysphagia. Two twins had epilepsy. There was a marked dyscoordination of bulbar musculature reminiscent of pseudobulbar paresis. Involuntary movements were prominent during the first years, but then disappeared and were replaced by an akinetic‐rigid parkinsonian appearance in the late stage. The intellect remained largely intact. Tendon reflexes were reduced. Varying degrees of peripheral nerve changes were seen. Two patients died after 22–24 years from causes indirectly related to the main illness. Marked degenerative changes were found in the caudate nucleus and putamen. Acanthocytes in significant numbers could not be detected in peripheral blood. Lipoproteinelectrophoresis was normal. Creatine kinase levels were moderately raised in one patient, normal in the others. Although certain clinical resemblances exist with neuroacanthocytosis, the exact nosologic status of the disorder has not been determined.

Url:

https://api.istex.fr/document/A6647EEC28251C2E990206D13DA1220EFE5A1A2D/fulltext/pdf

DOI: 10.1002/mds.870130331

Affiliations:

Le document en format XML

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<term>Chorea (genetics)</term>
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<term>Dysarthria (genetics)</term>
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<term>Muscle Rigidity (genetics)</term>
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<term>Muscle Rigidity</term>
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<term>Parkinson Disease, Secondary</term>
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<term>Follow-Up Studies</term>
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<front><div type="abstract" xml:lang="en">In a family with two sets of dizygotic twins, three, possibly all four, siblings were affected by the same disorder. The parents were unrelated and the illness seemed limited to one generation. Onset was in the early to mid‐20s with tics and choreiform movements, dysarthria, and dysphagia. Two twins had epilepsy. There was a marked dyscoordination of bulbar musculature reminiscent of pseudobulbar paresis. Involuntary movements were prominent during the first years, but then disappeared and were replaced by an akinetic‐rigid parkinsonian appearance in the late stage. The intellect remained largely intact. Tendon reflexes were reduced. Varying degrees of peripheral nerve changes were seen. Two patients died after 22–24 years from causes indirectly related to the main illness. Marked degenerative changes were found in the caudate nucleus and putamen. Acanthocytes in significant numbers could not be detected in peripheral blood. Lipoproteinelectrophoresis was normal. Creatine kinase levels were moderately raised in one patient, normal in the others. Although certain clinical resemblances exist with neuroacanthocytosis, the exact nosologic status of the disorder has not been determined.</div>
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Movement Disorders (revue)

Progressive pseudobulbar paresis, early choreiform movements, and later rigidity: Appearance in two sets of dizygotic twins in the same family

Progressive pseudobulbar paresis, early choreiform movements, and later rigidity: Appearance in two sets of dizygotic twins in the same family

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

	Movement Disorders (revue)
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