Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency: first adult-onset patients of a childhood disease.

van Diggelen, O P; Thobois, S; Tilikete, C; Zabot, M T; Keulemans, J L; van Bunderen, P A; Taschner, P E; Losekoot, M; Voznyi, Y V

van Diggelen, O P; Thobois, S; Tilikete, C; Zabot, M T; Keulemans, J L; van Bunderen, P A; Taschner, P E; Losekoot, M; Voznyi, Y V.

Afiliación

van Diggelen OP; Department of Clinical Genetics, Erasmus University, Rotterdam, The Netherlands. vandiggelen@kgen.fgg.eur.nl

Ann Neurol ; 50(2): 269-72, 2001 Aug.

Article en En | MEDLINE | ID: mdl-11506414

RESUMEN

The fluorogenic enzyme assay for palmitoyl-protein thioesterase (PPT) has greatly facilitated the diagnosis of infantile neuronal ceroid lipofuscinosis (Santavuori-Haltia disease) and the search for possible new variants with atypical clinical presentation. Here, we present the first cases of adult neuronal ceroid lipofuscinosis with onset in the fourth decade of life due to a profound deficiency of PPT. The causative mutations in the CLN1 gene were the known, deleterious mutation R151X and the novel missense mutation G108R. Patients presented at onset (31 and 38 years), with psychiatric symptoms only. At present (ages 56 and 54 years), visual, verbal, and cognitive losses have progressed and both patients have cerebellar ataxia and cannot walk without support.

Asunto(s)

Lipofuscinosis Ceroideas Neuronales/metabolismo; Tioléster Hidrolasas/deficiencia; Adulto; Edad de Inicio; Femenino; Fluorometría/métodos; Humanos; Persona de Mediana Edad

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Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Tioléster Hidrolasas / Lipofuscinosis Ceroideas Neuronales Límite: Adult / Female / Humans / Middle aged Idioma: En Revista: Ann Neurol Año: 2001 Tipo del documento: Article País de afiliación: Países Bajos Pais de publicación: Estados Unidos

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