TY - JOUR
T1 - Acetazolamide-responsive episodic ataxia in an Italian family refines gene mapping on chromosome 19p13
AU - Calandriello, L.
AU - Veneziano, L.
AU - Francia, A.
AU - Sabbadini, G.
AU - Colonnese, C.
AU - Mantuano, E.
AU - Jodice, C.
AU - Trettel, F.
AU - Viviani, P.
AU - Manfredi, M.
AU - Frontali, M.
PY - 1997/5
Y1 - 1997/5
N2 - 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 ~ 1.5 Mb between markers D19S221 and D19S226.
AB - 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 ~ 1.5 Mb between markers D19S221 and D19S226.
KW - Autosomal dominant cerebellar ataxias
KW - Cerebellar vermis atrophy
KW - Chromosome 19p
KW - Episodic ataxia type 2
KW - Vestibulocerebellar paroxysmal ataxia
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U2 - 10.1093/brain/120.5.805
DO - 10.1093/brain/120.5.805
M3 - Article
C2 - 9183251
AN - SCOPUS:0031005965
SN - 0006-8950
VL - 120
SP - 805
EP - 812
JO - Brain
JF - Brain
IS - 5
ER -