A previously undiagnosed case of Gerstmann-Straussler-Scheinker disease revealed by prnp gene analysis in patients with adult-onset ataxia

被引：10

作者：

Cagnoli, Claudia

Brussino, Alessandro

Sbaiz, Luca ^{[1
]}

Di Gregorio, Eleonora

Atzori, Cristiana ^{[2
]}

Caroppo, Paola ^{[3
]}

Orsi, Laura ^{[3
]}

Migone, Nicola

Buffa, Carlo ^{[2
]}

Imperiale, Daniele ^{[2
]}

Brusco, Alfredo

机构：

[1] Azienda Osped, S Anna Torino, Italy

[2] Ctr Diag Osservaz Malattie Prioni DOMP ASL3, Turin, Italy

[3] Az Osp San Giovanni Battista, Dept Neurosci, SCDU Neurol 1, Turin, Italy

来源：

MOVEMENT DISORDERS | 2008年 / 23卷 / 10期

关键词：

Gerstmann-Straussler-Scheinker syndrome; prion disease; PRNP; ataxia; dementia;

D O I：

10.1002/mds.21953

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Ataxia is a frequently reported symptom in prion diseases (PD) and it is characteristic of Gerstmann-Straussler-Scheinker syndrome (GSS), a genetic PD mainly related to the P1021L mutation in the PRNP gene. Our aim was to screen for the P102L and other six known PRNP gene mutations (P105L, A117V, Y145X, D202N, E200K, and V2101) a group of 206 consecutive patients diagnosed with adult-onset cerebellar ataxia of unknown origin. The patients, negative for the most common acquired and genetic forms, were analyzed using a combination of restriction endonuclease digestion and pyrose-quencing; eight, affected by ataxia and cognitive dysfunction, were also sequenced for the PRNP gene. (C) 2008 Movement Disorder Society.

引用

页码：1468 / 1471

页数：4

共 6 条

[1] The aetiology of sporadic adult-onset ataxia [J].

Abele, M ;

Bürk, K ;

Schöls, L ;

Schwartz, S ;

Besenthal, I ;

Dichgans, J ;

Zühlke, C ;

Riess, O ;

Klockgether, T .

BRAIN, 2002, 125 :961-968

[2] FMR1 gene premutation is a frequent genetic cause of late-onset sporadic cerebellar ataxia [J].

Brussino, A ;

Gellera, C ;

Saluto, A ;

Mariotti, C ;

Arduino, C ;

Castellotti, B ;

Camerlingo, M ;

de Angelis, V ;

Orsi, L ;

Tosca, P ;

Migone, N ;

Taroni, F ;

Brusco, A .

NEUROLOGY, 2005, 64 (01) :145-147

[3] Sporadic and familial CJD: classification and characterisation [J].

Gambetti, P ;

Kong, QZ ;

Zou, WQ ;

Parchi, P ;

Chen, SG .

BRITISH MEDICAL BULLETIN, 2003, 66 :213-+

[4] Hereditary prion protein amyloidoses [J].

Ghetti, B ;

Tagliavini, F ;

Takao, M ;

Bugiani, O ;

Piccardo, P .

CLINICS IN LABORATORY MEDICINE, 2003, 23 (01) :65-+

[5] Genetic prion disease:: the EUROCJD experience [J].

Kovács, GG ;

Puopolo, M ;

Ladogana, A ;

Pocchiari, M ;

Budka, H ;

van Duijn, C ;

Collins, SJ ;

Boyd, A ;

Giulivi, A ;

Coulthart, M ;

Delasnerie-Laupretre, N ;

Brandel, JP ;

Zerr, I ;

Kretzschmar, HA ;

de Pedro-Cuesta, J ;

Calero-Lara, M ;

Glatzel, M ;

Aguzzi, A ;

Bishop, M ;

Knight, R ;

Belay, G ;

Will, R ;

Mitrova, E .

HUMAN GENETICS, 2005, 118 (02) :166-174

[6] Genetic background of apparently idiopathic sporadic cerebellar ataxia [J].

Schöls, L ;

Szymanski, S ;

Peters, S ;

Przuntek, H ;

Epplen, JT ;

Hardt, C ;

Riess, O .

HUMAN GENETICS, 2000, 107 (02) :132-137

← 1 →