• Je něco špatně v tomto záznamu ?

Genotype/phenotype correlation in a SCA1 family: anticipation without CAG expansion

Bauer PO, Matoska V, Zumrova A, Boday A, Doi H, Marikova T, Goetz P

. 2005 ; 46 (3) : 325-328.

Jazyk angličtina Země Polsko

Typ dokumentu srovnávací studie

Perzistentní odkaz   https://www.medvik.cz/link/bmc07500966

Grantová podpora
NM7405 MZ0 CEP - Centrální evidence projektů

We report on a family with spinocerebellar ataxia type 1 (SCA1), in which the age at onset and the severity of the disease do not correlate with the number of CAG repeat units. Although a marked anticipation was observed in the proband, it was not a consequence of an expansion of the CAG tract. None of the expanded alleles contained CAT interruptions. The pathologic expansion in this family was stable during the paternal but not maternal transmission, where it expanded by one trinucleotide and unexpectedly did not lead to anticipation. Our observations suggest that factors other than the length of the CAG repeat play a considerable role in determination of the disease course.

000      
02812naa 2200493 a 4500
001      
bmc07500966
003      
CZ-PrNML
005      
20130604084741.0
008      
070927s2005 pl e eng||
009      
AR
040    __
$a ABA008 $b cze $c ABA008 $d ABA008 $e AACR2
041    0_
$a eng
044    __
$a pl
100    1_
$a Bauer, Peter $7 xx0118799
245    10
$a Genotype/phenotype correlation in a SCA1 family: anticipation without CAG expansion / $c Bauer PO, Matoska V, Zumrova A, Boday A, Doi H, Marikova T, Goetz P
314    __
$a Neurogenetic Centre, Institute of Biology and Medical Genetics, Dept. of Child Neurology, Family Hospital Motol and 2nd Medical Faculty of Charles University, Prague, Czech Republic. p.bauer@brain.riken.jp
520    9_
$a We report on a family with spinocerebellar ataxia type 1 (SCA1), in which the age at onset and the severity of the disease do not correlate with the number of CAG repeat units. Although a marked anticipation was observed in the proband, it was not a consequence of an expansion of the CAG tract. None of the expanded alleles contained CAT interruptions. The pathologic expansion in this family was stable during the paternal but not maternal transmission, where it expanded by one trinucleotide and unexpectedly did not lead to anticipation. Our observations suggest that factors other than the length of the CAG repeat play a considerable role in determination of the disease course.
650    _2
$a spinocerebelární ataxie $x genetika $x patologie $7 D020754
650    _2
$a expanze trinukleotidových repetic $7 D019680
650    _2
$a dospělí $7 D000328
650    _2
$a věk při počátku nemoci $7 D017668
650    _2
$a alely $7 D000483
650    _2
$a genotyp $7 D005838
650    _2
$a lidé středního věku $7 D008875
650    _2
$a rodokmen $7 D010375
650    _2
$a fenotyp $7 D010641
650    _2
$a polymerázová řetězová reakce $7 D016133
650    _2
$a lidé $7 D006801
650    _2
$a finanční podpora výzkumu jako téma $7 D012109
655    _2
$a srovnávací studie $7 D003160
700    1_
$a Maťoška, Václav $7 xx0060588
700    1_
$a Zumrová, Alena, $d 1957- $7 mzk2004248614
700    1_
$a Bóday, Arpád $7 xx0060587
700    1_
$a Doi, H.
700    1_
$a Maříková, Taťána, $d 1956- $7 mzk2004248639
700    1_
$a Goetz, Petr, $d 1937-2020 $7 jn20000400782
773    0_
$w MED00002521 $t Journal of applied genetics $g Roč. 46, č. 3 (2005), s. 325-328 $x 1234-1983
910    __
$y 1 $a ABA008 $b x
990    __
$a 20070927143245 $b ABA008
991    __
$a 20130604085116 $b ABA008
999    __
$a ok $b bmc $g 616576 $s 469008
BAS    __
$a 3
BMC    __
$a 2005 $b 46 $c 3 $d 325-328 $i 1234-1983 $m Journal of Applied Genetics $x MED00002521
GRA    __
$a NM7405 $p MZ0
LZP    __
$a 2007-2/jtjt
Zpět

Najít záznam

Citační ukazatele

Možnosti archivace