Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency: first adult-onset patients of a childhood disease
| Autor: | Monique Losekoot, Peter E.M. Taschner, Yakov V. Voznyi, Caroline Tilikete, Marie‐Thérèse Zabot, Otto P. van Diggelen, Stéphane Thobois, Patrick A. van Bunderen, J. L. M. Keulemans |
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| Přispěvatelé: | Clinical Genetics |
| Rok vydání: | 2001 |
| Předmět: |
Adult
medicine.medical_specialty Infantile neuronal ceroid lipofuscinosis Neuronal Ceroid-Lipofuscinoses Internal medicine medicine Humans Missense mutation Fluorometry Palmitoyl protein thioesterase Age of Onset biology Cerebellar ataxia PPT1 Middle Aged medicine.disease Palmitoyl(protein) hydrolase Endocrinology Neurology biology.protein Female Neuronal ceroid lipofuscinosis Thiolester Hydrolases Neurology (clinical) Age of onset medicine.symptom |
| Zdroj: | Annals of Neurology, 50, 269-272. John Wiley & Sons Inc. |
| ISSN: | 1531-8249 0364-5134 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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