title: Acetazolamide-responsive episodic ataxia in an Italian family refines gene mapping on chromosome 19p13.
abstract: Episodic ataxia type 2 is an autosomal dominant disorder with attacks of vertigo and ataxia which respond to acetazolamide treatment. The gene, distinct from the KCNA1 responsible for episodic ataxia type 1, has been mapped on chromosome 19p13 in a 11-12 cM region. A large Italian kindred affected with acetazolamide-responsive episodic ataxia is reported, with onset in adulthood, a strong vestibular component during attacks and a high frequency of cerebellar vermis degeneration. The genetic analysis (i) showed strong linkage between the disease and the 19p13 microsatellite markers in a region which widely overlaps that previously reported and (ii) set a new distal boundary of the gene-containing region. Combining present and previous mapping data, the gene of episodic etaxia type 2 is most probably located in an interval approximately 1.5 Mb between markers D19S221 and D19S226.
authors.affiliation: Istituto di Medicina Sperimentale del CNR, Rome, Italy.
authors.forename: L
authors.initials: L
authors.lastname: Calandriello
authors.forename: L
authors.initials: L
authors.lastname: Veneziano
authors.forename: A
authors.initials: A
authors.lastname: Francia
authors.forename: G
authors.initials: G
authors.lastname: Sabbadini
authors.forename: C
authors.initials: C
authors.lastname: Colonnese
authors.forename: E
authors.initials: E
authors.lastname: Mantuano
authors.forename: C
authors.initials: C
authors.lastname: Jodice
authors.forename: F
authors.initials: F
authors.lastname: Trettel
authors.forename: P
authors.initials: P
authors.lastname: Viviani
authors.forename: M
authors.initials: M
authors.lastname: Manfredi
authors.forename: M
authors.initials: M
authors.lastname: Frontali
mesh_terms: D000086:Acetazolamide / Q000627:therapeutic use*; D000328:Adult; D000368:Aged; D001259:Ataxia / Q000188:drug therapy* / Q000235:genetics* / Q000503:physiopathology; D001921:Brain / Q000473:pathology; D002874:Chromosome Mapping; D002888:Chromosomes, Human, Pair 19; D005260:Female; D006801:Humans; D007558:Italy; D008279:Magnetic Resonance Imaging; D008297:Male; D018895:Microsatellite Repeats; D008875:Middle Aged; D010375:Pedigree
chemical_list: D000086:Acetazolamide