A Rare Dementing Disease: Adult Neuronal Ceroid Lipofuscinoses

To emphasize the importance of clinical and ultrastructural findings for diagnosing adult neuronal ceroid lipofuscinosis (ANCL), the authors retrospectively reviewed six patients with biopsy-proven ANCL. In all cases, ophthalmologic examinations were normal, and electron microscopic studies demonstr...

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Published in:The journal of neuropsychiatry and clinical neurosciences 2012-10, Vol.24 (4), p.493-498
Main Authors: Babacan-Yildiz, Gulsen, Hanagasi, Hasmet, Gurvit, Hakan, Sirin, Gorkem, Solakoglu, Seyhun, Kucuk, Ozlem Su
Format: Article
Language:English
Subjects:
Adult
Biological and medical sciences
Brain - pathology
Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases
Dementia - diagnosis
Dementia - pathology
Diagnosis, Differential
Female
Humans
Magnetic Resonance Imaging
Male
Medical sciences
Middle Aged
Neurology
Neuronal Ceroid-Lipofuscinoses - diagnosis
Neuronal Ceroid-Lipofuscinoses - pathology
Retrospective Studies
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Summary:To emphasize the importance of clinical and ultrastructural findings for diagnosing adult neuronal ceroid lipofuscinosis (ANCL), the authors retrospectively reviewed six patients with biopsy-proven ANCL. In all cases, ophthalmologic examinations were normal, and electron microscopic studies demonstrated characteristic granular osmiophilic deposits within the eccrine epithelial cells. The inheritance and mechanism of ANCL remain unknown, and the diagnosis is based on clinical features and ultrastructural examination of the cerebral tissue or extracerebral accumulation of lipopigments. This study suggests that ANCL should be considered as a possible diagnosis in patients with early-onset dementia.
ISSN:0895-0172
1545-7222
DOI:10.1176/appi.neuropsych.11080182