Head of the caudate nucleus is most vulnerable in chorea–acanthocytosis: A voxel‐based morphometry study
Identifieur interne : 001E73 ( Istex/Checkpoint ); précédent : 001E72; suivant : 001E74Head of the caudate nucleus is most vulnerable in chorea–acanthocytosis: A voxel‐based morphometry study
Auteurs : Karsten Henkel [Allemagne] ; Adrian Danek [Allemagne, États-Unis] ; Jordan Grafman [États-Unis] ; John Butman [États-Unis] ; Jan Kassubek [Allemagne]Source :
- Movement Disorders [ 0885-3185 ] ; 2006-10.
English descriptors
Abstract
Chorea–acanthocytosis (ChAc; OMIM 200150) is a rare autosomal recessive disease with dysfunction of the erythrocyte membrane, presenting with acanthocytes and neurological manifestations characterized by progressive hyperkinesias (chorea, dystonia) and neuropsychological impairment. Damage to the basal ganglia was described previously in neuropathological and neuroimaging investigations. We analyzed high‐resolution MRI of six ChAc patients with mutations in the VPS13A gene (median age, 37 years; mean time since clinical onset, 13 years) with respect to regional atrophy by use of the observer‐independent technique of voxel‐based morphometry in comparison to 15 age‐matched healthy controls. Additionally, global brain atrophy was determined using the standardized brain parenchymal fraction (BPF) method. A robust regional reduction of gray matter density was observed in the head of the caudate nucleus bilaterally and was nearly symmetrical (P < 0.001, corrected for small volumes). No additional gray matter changes were found. In the BPF analysis, there was no significant global brain atrophy. The predilection of atrophy in the head of the caudate nucleus, as suggested by our results, argues for a particular vulnerability of this part of the striatum in ChAc and is in agreement with pronounced neuropsychological disturbances that are thought to rely on these regions. © 2006 Movement Disorder Society
Url:
DOI: 10.1002/mds.21046
Affiliations:
- Allemagne, États-Unis
- Bade-Wurtemberg, Bavière, District de Haute-Bavière, District de Tübingen, Maryland
- Munich, Ulm
- Université d'Ulm
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<front><div type="abstract" xml:lang="en">Chorea–acanthocytosis (ChAc; OMIM 200150) is a rare autosomal recessive disease with dysfunction of the erythrocyte membrane, presenting with acanthocytes and neurological manifestations characterized by progressive hyperkinesias (chorea, dystonia) and neuropsychological impairment. Damage to the basal ganglia was described previously in neuropathological and neuroimaging investigations. We analyzed high‐resolution MRI of six ChAc patients with mutations in the VPS13A gene (median age, 37 years; mean time since clinical onset, 13 years) with respect to regional atrophy by use of the observer‐independent technique of voxel‐based morphometry in comparison to 15 age‐matched healthy controls. Additionally, global brain atrophy was determined using the standardized brain parenchymal fraction (BPF) method. A robust regional reduction of gray matter density was observed in the head of the caudate nucleus bilaterally and was nearly symmetrical (P < 0.001, corrected for small volumes). No additional gray matter changes were found. In the BPF analysis, there was no significant global brain atrophy. The predilection of atrophy in the head of the caudate nucleus, as suggested by our results, argues for a particular vulnerability of this part of the striatum in ChAc and is in agreement with pronounced neuropsychological disturbances that are thought to rely on these regions. © 2006 Movement Disorder Society</div>
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