Parkinsonism in type 1 Gaucher’s disease

[...]of such mutations, there is decreased activity of the enzyme and subsequent glucocerebroside accumulation in cells of the macrophage-monocyte system. On neurological examination there was moderate bilateral weakness of ankle dorsiflexion (he had an electroneuromyography in 2002 which revealed b...

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Bibliographic Details
Published in:Journal of neurology, neurosurgery and psychiatry neurosurgery and psychiatry, 2006-05, Vol.77 (5), p.709-710
Main Authors: Spitz, M, Rozenberg, R, Silveira, P A A, Barbosa, E R
Format: Article
Language:English
Subjects:
Age
DNA Mutational Analysis
Enzymes
Gaucher Disease - diagnosis
Gaucher Disease - genetics
Gaucher’s disease
Genetic Testing
Glucosylceramidase - genetics
Humans
Letter
Lumbar Vertebrae
Male
Middle Aged
Mutation
Neurologic Examination
Parkinson's disease
Parkinsonian Disorders - diagnosis
Parkinsonian Disorders - genetics
parkinsonism
Patients
Peroneal Neuropathies - diagnosis
Peroneal Neuropathies - genetics
Radiculopathy - diagnosis
Radiculopathy - genetics
Spinal Stenosis - diagnosis
Spinal Stenosis - genetics
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Summary:[...]of such mutations, there is decreased activity of the enzyme and subsequent glucocerebroside accumulation in cells of the macrophage-monocyte system. On neurological examination there was moderate bilateral weakness of ankle dorsiflexion (he had an electroneuromyography in 2002 which revealed bilateral L4-S1 radiculopathy and left fibular nerve neuropathy; lumbosacral spine computed tomography showed spinal stenosis at L3-L4; such abnormalities had been attributed to GD), cogwheel rigidity of both upper and lower limbs, mild bilateral kinetic tremor, lower limb dyskinesias, and loss of ankle reflexes.
ISSN:0022-3050
1468-330X
DOI:10.1136/jnnp.2005.076240