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At least 19 recordsLinked to original sources
PubMed1998

Osteogenesis imperfecta-like syndrome with severe mental retardation and extrapyramidal tract signs.

We report a girl with a unique combination of malformations, including recurrent fractures, mental retardation with extrapyramidal tract signs and minor facial abnormalities. Generalised osteoporosis with overtubulation of long bones was similar to that of osteogenesis imperfecta (OI). However, the short tubular bones were distinctively undertubulated and wormian bones were not found. Based on clinical, laboratory and neuroradiological examinations, it was less likely that bone fragility was attributable to disuse bone atrophy related to her physical handicap and the neurological abnormalities secondary to brain insult. She is presumed to have a previously undescribed OI-like syndrome.

Basal Ganglia Diseases↗
PubMed1994

A new patient with alpha-ketoglutaric aciduria and progressive extrapyramidal tract disease.

A 4.5-year-old boy with chronic progressive encephalopathy is described. The clinical presentation initially included seizures and hypotonia which later evolved into severe extrapyramidal disease and dementia. The gas chromatography/mass spectrometry (GC/MS) analysis of urine indicated that alpha-ketoglutarate was increased 210 times and aconitic acid 80 times. No disturbance of acid/base balance, lactic acid or ammonia metabolism accompanied this clinical picture. The fibroblasts contained 29% of normal alpha-ketoglutarate dehydrogenase activity, while the activity of another mitochondrial marker enzyme, glutamate dehydrogenase, was normal. The neuroimaging studies revealed bilateral striatal necrosis. The clinical and biochemical findings were almost identical to two previously reported patients. Experience with this patient emphasizes the need for detailed organic acid biochemical investigation in any progressive encephalopathy and that extrapyramidal tract signs should evoke the possibility of alpha-ketoglutaric aciduria, among other 'neurologic organic acidemias'.

Basal Ganglia Diseases↗
PubMed2003

"Hydrocephalus-parkinsonism complex": progressive hydrocephalus as a factor affecting extrapyramidal tract disorder-an experimental study.

OBJECTIVE: To experimentally clarify the symptomatological and pathophysiological aspects of a newly proposed clinical entity, we produced an experimental rat "hydrocephalus-parkinsonism complex" model. METHODS: A total of 60 male Sprague-Dawley rats were used. Twenty rats were treated with only kaolin as controls. Hemiparkinsonism was induced in the other 40 rats by stereotactic injection of 6-hydroxydopamine (6-OHDA) directly into the right substantia nigra. Twenty of these 40 rats were then treated with an injection of kaolin into the cisterna magna 3 days after the induction of parkinsonism. Neurological features were assessed weekly for 1 to 6 weeks after 6-OHDA injection by an apomorphine-induced turning test. RESULTS: The mortality rate was 25% in the rats injected with kaolin and 10% in those with the 6-OHDA injection. The frequency of the induction of parkinsonism-like signs was minimal in the first 2 weeks and reached a maximum point 4 weeks after the 6-OHDA injection. In contrast, the rats injected with both 6-OHDA and kaolin developed hemiparkinsonism-like signs in the early stage of the progression of hydrocephalus, and the peak incidence was reached in the 2nd week after induction ( p<0.05 compared with the 6-OHDA group). The severity of the neurological disturbance was also significantly more prominent in the latter group. CONCLUSION: These results suggest that the hydrodynamic effect in the early period of ventriculomegaly is the mechanism for signs of parkinsonism in 6-OHDA-treated rats. It could be concluded that the hydrocephalic state aggravates parkinsonism, if any as the associated condition, and it may be a new clinical entity of hydrocephalus symptomatology with a specific pathophysiology.

Animals↗