title: A gene for hereditary paroxysmal cerebellar ataxia maps to chromosome 19p.
abstract: Hereditary paroxysmal cerebellar ataxia (HPCA) is an autosomal dominant disorder characterized by the recurrence of intermittent attacks of vestibulocerebellar ataxia lasting from 15 minutes to a few days. The number of attacks is often significantly decreased by acetazolamide treatment. Neurological examination shows a permanent gaze-evoked nystagmus, as well as a mild cerebellar ataxia in most patients. The paroxysmal feature of this condition is shared by another autosomal dominant neurological condition, familial hemiplegic migraine (FHM), a condition in which permanent cerebellar signs have also been reported in some families. Although hemiplegic migraine has never been reported in patients with HPCA, we hypothesized, based on the latter observations, that HPCA and FHM may be allelic disorders. We previously mapped a gene responsible for FHM on the short arm of chromosome 19. We performed linkage analysis with 6 markers spanning the FHM interval on a large HPCA family. Significant lod scores were obtained with 3 markers: D19S244 (LS = 3.71), D19S221 (3.60), and D19S226 (3.54) at theta = 0. Haplotype and multipoint linkage analysis established that the most likely location was the same interval of 30 cM encompassing the chromosome 19 FHM locus.
authors.affiliation: Inserm U25, Faculté de Médecine Necker-Enfants-Malades, Paris, France.
authors.forename: K
authors.initials: K
authors.lastname: Vahedi
authors.forename: A
authors.initials: A
authors.lastname: Joutel
authors.forename: P
authors.initials: P
authors.lastname: Van Bogaert
authors.forename: A
authors.initials: A
authors.lastname: Ducros
authors.forename: J
authors.initials: J
authors.lastname: Maciazeck
authors.forename: J F
authors.initials: JF
authors.lastname: Bach
authors.forename: M G
authors.initials: MG
authors.lastname: Bousser
authors.forename: E
authors.initials: E
authors.lastname: Tournier-Lasserve
mesh_terms: D002524:Cerebellar Ataxia / Q000150:complications / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002874:Chromosome Mapping; D002888:Chromosomes, Human, Pair 19; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree
chemical_list: D005819:Genetic Markers