Soehendra, M. and Harzer, K. and Aslanidis, C. and Schmitz, G. and Hoffmann, M. and Grau, A. (2008) Adult form of Niemann-Pick disease type C - Case report and discussion of a new therapeutic option. AKTUELLE NEUROLOGIE, 35 (5). 234-+. ISSN 0302-4350,
Full text not available from this repository. (Request a copy)Abstract
We report the case of a 43-year-old male patient, who presented with a slowly progressive gait disorder since the age of 27. In the neurological examination he showed a supranuclear vertical gaze palsy, cognitive impairment, limb and gait ataxia and dystonia. The MRI scan showed marked temporal und cerebellar atrophy, an ultrasound of the abdomen revealed splenomegaly. Bone marrow cytology revealed seablue histiocytes and foamy storage macrophages. Fibroblast cultures were assayed with the Filipin method and revealed positive lysosomal cholesterol accumulation. Genetic testing demonstrated two heterozygous mutations of defect alleles in the NPC1 gene (compound heterozygousity). Niemann-Pick disease type C is a rare autosomal recessive lipid storage disorder with variable clinical presentation, mostly beginning in early childhood or adolescence. Late manifestations have only rarely been reported. With oral Miglustat, an inhibitor of ceramide-specific glycosyltransferase, a first therapeutic strategy with possible benefits is currently under investigation.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | ; Niemann-Pick disease; Miglustat; therapy |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Klinische Chemie und Laboratoriumsmedizin |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 29 Oct 2020 11:47 |
| Last Modified: | 29 Oct 2020 11:53 |
| URI: | https://pred.uni-regensburg.de/id/eprint/30755 |
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