Novel heterozygous STUB1 gene mutation causes SCA48 in a Hungarian patient

Spinocerebellar ataxia type 48 (SCA48) is an autosomal dominantly inherited disease characterized by gait and limb ataxia, cerebellar dysarthria, cognitive impairment, psychiatric abnormalities and variable types of movement disorders. To date, more than 30 STUB1 gene (NM_005861.4) mutations have be...

Teljes leírás

Elmentve itt :
Bibliográfiai részletek
Szerzők: Szpisjak László
Salamon András
Németh Viola Luca
Szépfalusi Noémi
Maróti Zoltán
Kalmár Tibor
Zimmermann Aliz
Zádori Dénes
Klivényi Péter
Dokumentumtípus: Cikk
Megjelent: 2023
Sorozat:IDEGGYOGYASZATI SZEMLE / CLINICAL NEUROSCIENCE 76 No. 1-2
Tárgyszavak:
doi:10.18071/isz.76.0063

mtmt:33614725
Online Access:http://publicatio.bibl.u-szeged.hu/26783
LEADER 02371nab a2200313 i 4500
001 publ26783
005 20230322125423.0
008 230322s2023 hu o 0|| Angol d
022 |a 0019-1442 
024 7 |a 10.18071/isz.76.0063  |2 doi 
024 7 |a 33614725  |2 mtmt 
040 |a SZTE Publicatio Repozitórium  |b hun 
041 |a Angol 
100 1 |a Szpisjak László 
245 1 0 |a Novel heterozygous STUB1 gene mutation causes SCA48 in a Hungarian patient  |h [elektronikus dokumentum] /  |c  Szpisjak László 
260 |c 2023 
300 |a 63-72 
490 0 |a IDEGGYOGYASZATI SZEMLE / CLINICAL NEUROSCIENCE  |v 76 No. 1-2 
520 3 |a Spinocerebellar ataxia type 48 (SCA48) is an autosomal dominantly inherited disease characterized by gait and limb ataxia, cerebellar dysarthria, cognitive impairment, psychiatric abnormalities and variable types of movement disorders. To date, more than 30 STUB1 gene (NM_005861.4) mutations have been described in the genetic background of SCA48.The aim of this short report was to demonstrate the first Hungarian SCA48 patient caused by a novel STUB1 missense mutation (c.788G>C, p.Arg263Pro). The characteristics of detailed neurological phenotype, brain MRI and genetic assessment are presented and compared to previously published cases. The most important neurological findings of the patient were gait ataxia, dysarthria, cognitive decline and psychiatric problems including depression, anxiety and mild impulsivity. The brain MRI demonstrated cerebellar atrophy with posterolateral predominance and frontal lobe cortical atrophy. Clinical exome sequencing examination identified the above-mentioned missense variant located in the significant ubiquitinase domain of the CHIP protein.In this paper the first Hungarian SCA48 patient was described with characteristic neuropsychiatric signs and brain MRI abnormalities, due to a novel STUB1 gene missense mutation. 
650 4 |a Klinikai orvostan 
700 0 1 |a Salamon András  |e aut 
700 0 1 |a Németh Viola Luca  |e aut 
700 0 1 |a Szépfalusi Noémi  |e aut 
700 0 1 |a Maróti Zoltán  |e aut 
700 0 1 |a Kalmár Tibor  |e aut 
700 0 1 |a Zimmermann Aliz  |e aut 
700 0 1 |a Zádori Dénes  |e aut 
700 0 1 |a Klivényi Péter  |e aut 
856 4 0 |u http://publicatio.bibl.u-szeged.hu/26783/1/SzpisjakL._ujabb-stub1-genmutacio-okozta-sca48-egy-magyar-paciensnel.pdf  |z Dokumentum-elérés