Cerebellar dysfunction in a family harboring the PSEN1 mutation co-segregating with a Cathepsin D variant p.A58V

Journal of the Neurological Sciences

Volumn 326, Issue 1-2, 2013, Pages 75-82

  Ehling, Rainer ^a   Nosková, Lenka ^b   Stránecký, Viktor ^b   Hartmannová, Hana ^b   Přistoupilová, Anna ^b   Hodaňová, Kateřina ^b   Benke, Thomas ^a   Kovacs, Gabor G ^c   Ströbel, Thomas ^c   Niedermüller, Ulrike ^d   Wagner, Michaela ^a   Nachbauer, Wolfgang ^a   Janecke, Andreas ^a   Budka, Herbert ^c   Boesch, Sylvia ^a   Kmoch, Stanislav ^b  

^a INNSBRUCK MEDICAL UNIVERSITY   (Austria)

^b Charles University in Prague and General University Hospital in Prague   (Czech Republic)

^c MEDICAL UNIVERSITY OF VIENNA   (Austria)

^d Krankenhaus der Barmherzigen Schwestern Ried Betriebsgesellschaft mbH   (Austria)

Author keywords

Adult neuronal ceroid lipofuscinosis; Ataxia; Cathepsin D; Early onset Alzheimer's disease; Exome sequencing; Presenilin1

Indexed keywords

CATHEPSIN D; PRESENILIN 1;

ADULT; ALZHEIMER DISEASE; AMNESIA; ARTICLE; ATAXIA; BRAIN DYSFUNCTION; CASE REPORT; COGNITIVE DEFECT; EXECUTIVE FUNCTION; EXOME; FEMALE; GENE MUTATION; GENE SEQUENCE; HUMAN; MALE; MOTOR DYSFUNCTION; PHENOTYPE; PRIORITY JOURNAL;

ADULT; ALZHEIMER DISEASE; CATHEPSIN D; CEREBELLAR DISEASES; FEMALE; GENETIC VARIATION; HUMANS; MALE; MUTATION; PEDIGREE; PRESENILIN-1;

EID: 84875413507     PISSN: 0022510X     EISSN: 18785883     Source Type: Journal    
DOI: 10.1016/j.jns.2013.01.017     Document Type: Article

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