| Autor: |
Yasha, T. C., Anadure, R. K., Mahadevan, A., Bhoi, K. K., Praveen, K. S., Misra, A., Das, Shyamal K., Sinha, S., Gayathri, N., Santosh, V., Swain, M., Mathuranath, P. S., Senapati, A. K., Taly, A. K., Shankar, S. K. |
| Předmět: |
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| Zdroj: |
Annals of Indian Academy of Neurology; 2007 Supplement 2, Vol. 10, p26-27, 2p |
| Abstrakt: |
Introduction: Adult Polyglucosan Body Disease (APSD), a rare neurodegenerative condition is caused by Glycogen Brancher enzyme deficiency. It is distinct from Lafora body disease, and is characterized by dementia, neurogenic bladder, UMN features and peripheral neuropathy. Aim: We report the phenotype and histopathological characteristics of a series of 7 patients of APBD from India for the first time. Materials and Methods: We report 7 cases of confirmed APBD (mean age: 35.7 years, M:F:: 5:2). The diagnosis was established histologically by either nerve (n=5) or skin (n=2) biopsies showing characteristic polyglucosan bodies (PGB) in axons or sweat glands respectively labeled by PAS-diastase, Lugol's iodine and ubiquitin. Results: The age at onset varied from 11 to 55 years. Five out of 7 patients were less than 40 years, in contrast with reported literature (mostly above 40 years). The duration of illness ranged from 7 months to 24 years. All patients had at least 2 or more sites of neuraxis involvement. Cognitive, pyramidal, extrapyramidal and peripheral nerve involvement was present in 6, 5, 4 and 4 each respectively. Neuroimaging revealed white matter abnormalities in 4/5. The hitherto unreported features were: seizures (2), optic atrophy (1) and prominent cerebellar symptoms (1). Conclusions: This study suggests that although rare, APBD might be more prevalent and needs high index of suspicion for diagnosis. Our cases further expand the phenotype. In two patients, the diagnosis was established primarily by skin biopsy highlighting the utility of a less invasive axillary skin biopsy in clinically probable cases. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
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