Brain, Vol. 122, No. 12, 2375-2386,
December 1999
© 1999 Oxford University Press
Review article |
Prominent psychiatric features and early onset in an inherited prion disease with a new insertional mutation in the prion protein gene
1 Service de Biochimie et Biologie Moléculaire, Hôpital Lariboisière and EP CNRS 1591, Faculté de Pharmacie (Paris V), 2 EPHE and U.106 INSERM, Hôpital de la Salpêtrière, 3 INSERM U.360, Hôpital de la Salpêtrière, Paris and 4 Service de Neurologie A, CHRU, Lille, France
Correspondence to:
J.-L. Laplanche, Service de Biochimie, Hôpital Lariboisière, 2 rue A. Paré, 75475 Paris cédex 10, France E-mail: jean-louis.laplanche{at}lrb.ap-hop-paris.fr
In five generations of the French M-E kindred, 11 members are now known to be or have been affected by a form of spongiform encephalopathy previously recorded as Gerstmann–Sträussler–Scheinker disease. Mean age at onset was 28 years (range 21–34 years). In six instances, these patients were hospitalized in psychiatric institutions with various diagnoses, the most frequent being mania or mania-like symptoms. Dementia occurred progressively after a lengthy course. Histological studies showed atrophy of the cerebellar molecular layer, which contained kuru and multicentric plaques labelled with anti-prion protein antibodies. Spongiosis was not prominent and remained largely limited to the periphery of plaques; it was more marked in the thalamus, where plaques were scarce. A 192 base pair (bp) insert (eight extra repeats of 24 bp) in the octapeptide coding region of the prion protein gene (PRNP) within a codon-129 methionine allele was found in four symptomatic subjects. Early age at onset, the prominence of psychiatric symptoms and the long course of the disease are noticeable clinical features in this family with an inherited prion disease due to a new insertional mutation in PRNP.
prion diseases; Gerstmann–Sträussler–Scheinker disease; prion protein gene; psychiatry
bp = base pairs; CJD = Creutzfeldt–Jakob disease; GSS = Gerstmann–Sträussler–Scheinker disease; MMS = Mini-Mental State; PRNP = prion protein gene; PrP = prion protein; WAIS-R = Weschler Adult Intelligence Scale—Revised
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