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Article

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

Journal of the neurological sciences - 15 Mar 2013

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

Abstract excerpt

Presenile dementia may be caused by a variety of different genetic conditions such as familial Alzheimer's disease, prion disease as well as several hereditary metabolic disorders including adult onset neuronal ceroid lipofuscinosis. We report a multigenerational family with autosomal dominant presenile dementia harboring a cerebellar phenotype. Longitudinal clinical work-up in affected family members revealed...

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Identifiers

PMID: 23415546
DOI: 10.1016/j.jns.2013.01.017

Genes

PSEN1

Variants

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