Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0013362 (dysarthria)
 3,768 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Eleven new patients of Iraqi-Jewish origin with bilateral optic atrophy, neurological abnormalities ('optic atrophy plus' syndrome) and 3-methylglutaconic aciduria (type III) are described. Clinical abnormalities in decreasing order of frequency were bilateral optic atrophy, extrapyramidal signs, spasticity, ataxia, dysarthria and cognitive deficit. An association with age was found only for spasticity. Spasticity, extrapyramidal signs and optic atrophy frequently led to major disability, in contrast to ataxia, dysarthria and cognitive deficit. The combined excretion of 3-methylglutaconic and 3-methylglutaric acid ranged between 9 and 187 mmol/mol creatinine. The primary enzymatic defect possibly may reside in the mitochondrial respiratory chain.
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PMID:3-Methylglutaconic aciduria in the Iraqi-Jewish 'optic atrophy plus' (Costeff) syndrome. 751 Jun 56

Cerebellar mutism has been reported after surgery for posterior fossa tumors in children and, rarely, in adults. The pathogenesis of this syndrome remains unclear, and controversy exists regarding whether it is a purely psychogenic disorder or an organic syndrome. The anatomical substrate for the mutism also remains unknown. We encountered five cases of postoperative transient cerebellar mutism in a consecutive series of 63 children with posterior fossa tumors. These cases were analyzed and compared with the patients without mutism to find predictive factors for the occurrence of mutism, with the hope of elucidating further the pathophysiological mechanism. The most significant finding was the presence in all cases of a period of cerebellar dysarthria after resolution of the muteness. We, therefore, believe that cerebellar mutism is an extreme form of dysarthria, rather than a real cognitive deficit or a psychological disturbance.
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PMID:Transient cerebellar mutism after posterior fossa surgery in children. 872 37

Costeff syndrome or 3-methylglutaconic aciduria type 3, was described by a group of Israeli doctors in 1989. Since then more than 40 patients were described. Most of the patients are of Iraqi-Jewish origin. The clinical abnormalities are bilateral optic atrophy, extrapyramidal signs, spasticity ataxia, dysarthria and mild cognitive deficit. Recently, the gene responsible for this disorder, OPA3 gene was identified. This gene was also discovered by an Israeli doctor. This is a case history of a patient with Costeff syndrome presenting the characteristics of this syndrome and the gene that causes this disease.
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PMID:[Costeff syndrome: a syndrome that was described in Israel and the responsible gene discovered by an Israeli doctor]. 1683 91

The treatment of Parkinson's disease (PD) in subjects over 70 years old is simpler than in younger subjects for correcting the consequences of dopamine deficiency, but more complex with regard to symptoms resulting from non-dopaminergic lesions (axial symptoms, cognitive decline). Due to the lower risk of occurrence of motor fluctuations and severe dyskinesia, L-DOPA is the dopaminergic treatment with the best ratio of efficacy to side effects, and can be used without reservation. Treatment of non-dopaminergic symptoms is still disappointing. Apart from a partial beneficial effect of functional rehabilitation programmes, no treatment was demonstrated to be really effective for correcting dysarthria, swallowing disorders or impairment of gait and balance. Some efficacy in reducing the cognitive deficit in PD has been recently shown by cholinergic drugs, but their functional efficacy and their mid-term impact remain poor. Analysis of the different factors involved in the genesis of symptoms in PD (with the putative interest of the use of L-DOPA as a 'diagnostic tool'), and of the comorbidity usually enables cautious and pragmatic solutions to be found.
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PMID:[Specificities of the treatment of Parkinson's disease in the elderly]. 2363 Oct 47