Italian Huntington disease patients--data and tissue bank.
We have collected clinical and genetic data on Huntington disease (HD) patients and their families over the last 5 years at the Unit of Neurogenetics, IRCCS Neuromed of Pozzilli (IS), Italy. Data on 854 mutation carriers are included in the data bank, together with a large number of DNA samples, blood, and other tissues. In particular, lymphoblastoid cell lines from 100 patients, including subjects carrying very rare genetic conditions (CAG mutation homozygosity, juvenile and infantile onset, pre-mutations) have been established. For all these initiatives ethical approval from the bioethics committee was obtained. We wish to extend this initiative to all families, investigators, and institutions within and, possibly outside, the Italian border in an attempt to enlarge the bank and to institute a HD Research Roster.
Squitieri
F
F
IRCCS Neuromed, Localita Camerelle, 86077 Pozzilli (IS), Italy.
Cannella
M
M
Gaudio
L
L
Martino
T
T
Maglione
V
V
Giallonardo
P
P
Simonelli
M
M
Simonelli
G
G
Mangeruga
D
D
Ciarmiello
A
A
Pierelli
F
F
D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D006801:Humans; D006816:Huntington Disease / Q000235:genetics* / Q000473:pathology; D007558:Italy; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D008875:Middle Aged; D009154:Mutation; D014015:Tissue Banks; D014055:Tomography, Emission-Computed / Q000379:methods; D018911:Trinucleotide Repeats / Q000235:genetics*