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Target Concepts:
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Query: UMLS:C0013421 (
dystonia
)
8,418
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Alexander disease
is a rare neurodegenerative leucoencephalopathy caused by de novo mutations in the GFAP gene. Infantile, juvenile, and adult subtypes have been described and the clinical and radiological phenotypes are broad. Here we report on a single case of juvenile-onset
Alexander disease
associated with a novel frameshift mutation in the GFAP gene. The 8-year-old male patient had a relatively mild clinical phenotype characterized by
dystonia
, intermittent episodes of raised intracranial pressure, and characteristic radiological changes. He also presented with the additional and to our knowledge previously unreported, neuroimaging finding of periventricular calcification. We postulate that in children with leucoencephalopathy and periventricular calcification of undetermined aetiology, the diagnosis of
Alexander disease
should be considered. If the magnetic resonance imaging findings are compatible with
Alexander disease
, then DNA analysis of the GFAP gene should be performed even if the full criteria for a neuroradiological diagnosis are not met.
...
PMID:Alexander disease with periventricular calcification: a novel mutation of the GFAP gene. 2117 65
A 50-year-old woman developed gait disturbances and dysarthria since the past 2 years. She also presented with
dystonia
and hypokinesia of her left lower limb, and orthostatic hypotension. The dopamine transporter SPECT with
123
I ioflupane showed abnormal scans in bilateral striatum. Cerebral MRI revealed atrophy and signal changes in the medulla and spinal cord, from which
Alexander disease
(AxD) was suspected. Consequently, we checked the Glial fibrillary acidic protein (GFAP) gene. The analysis of the gene detected a heterozygous c.219G>T mutation, which was the first mutation reported in Japan, and finally she was diagnosed with AxD.
Dystonia
is relatively rare in AxD patients, but this case demonstrated that AxD should be listed in the differential diagnosis of extrapyramidal syndromes with abnormalities of the medulla and spinal cord on MRI.
...
PMID:[A case of Alexander disease presented with dystonia of lower limb and decreased dopaminergic uptake in dopamine transporter scintigraphy]. 3289 43
