Τίτλος:
Clinical and genetic heterogeneity in benign hereditary chorea
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
Background: Benign hereditary chorea (BHC) is an autosomal dominant
disorder that can be distinguished from Huntington disease by its early
onset, stable or only slightly progressive course, and absence of mental
deterioration. The variation in clinical features is such that its very
existence has been doubted. The authors recently described the
localization of a gene responsible for BHC on chromosome 14q in a large
Dutch family. Objective: To report results of extensive clinical and
linkage analyses for this Dutch family and six other families with BHC.
Results: Three of the seven families had linkage to a region on
chromosome 14q13.1-q21.1. HOMOG analysis showed odds of 10 x 10(11) in
favor of locus heterogeneity. Haplotype analyses for the linked families
resulted in a reduction of the critical interval for the BHC gene to 8.4
cM between marker D14S49 and marker D14S278. Clinically, these three
families had a homogeneous picture with early-onset chorea, sometimes
accompanied by slight ataxia in walking, but without dystonia, myoclonic
jerks, or dysarthria. The severity of the choreatic movements tended to
abate in adolescence or early adulthood. In the unlinked families,
symptoms and signs were more heterogeneous as to age at onset and the
occurrence of myoclonic jerks or dystonia. Conclusions: BHC is a
clinically and genetically heterogeneous disorder, with one well-defined
clinical syndrome mapping to chromosome 14q.
Συγγραφείς:
Breedveld, GJ
Percy, AK
MacDonald, ME
De Vries, BBA and
Yapijakis, C
Dure, LS
Ippel, EF
Sandkuijl, LA
Heutink, P
and Arts, WFM
Περιοδικό:
Functional Neurology
Εκδότης:
Lippincott, Williams & Wilkins
DOI:
10.1212/WNL.59.4.579
