Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0016719 (Friedreich's ataxia)
 2,098 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Urodynamic exploration with cystometry was performed at random on 55 of the 195 patients suffering from hereditary spinocerebellar degeneration (Friedreich's disease 43 cases, Pierre-Marie hereditary ataxia nine cases, Strumpell-Lorrain disease three cases). The authors observed disturbances in continence without urinary disorders, even when the bladder was atonic. In the case of Friedreich's disease, among the 18 patients with urgent urination or with urinary leakage, the bladder was found to be normal in only two cases. Although 25 patients evidenced no urinary disturbances, a through study revealed nine abnormal bladders. In the case of Pierre-Marie disease, six normal bladders and three pathological bladders were found. A single abnormal bladder was found in Strumpell-Lorrain disease. Two types of pathological bladder were observed: the atonic bladder was compared with the traumatic bladder, and was found primarily in conjunction with peripheral sensory disturbances. The hypertonic bladder appears when sensory involvement is not evident. The authors discuss the pathophysiology of these disturbances of continence.
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PMID:[Continence disorders in hereditary spinocerebellar degeneration. Comparison of clinical and urodynamic findings in 55 cases]. 649 33

A population-based, cross-sectional study was performed in southeast Norway, between January 2002 and February 2008, to identify subjects with hereditary ataxia and hereditary spastic paraplegia, and to estimate the prevalence of these disorders. Patients were recruited through colleagues, families, searches in computerized hospital archives and the National Patients' Association for Hereditary Ataxia and Spastic Paraplegia. Strict criteria were used for inclusion of familial and isolated subjects. A project neurologist examined all index subjects and clinical and genetic data were registered. The source population on January 1, 2008 was 2.63 million and the prevalence day was set as February 1, 2008. One hundred seventy-one subjects from 87 unrelated families with hereditary ataxia and 194 subjects from 65 unrelated families with hereditary spastic paraplegia were included. The total prevalence was estimated at 13.9/100 000. Hereditary ataxia prevalence in the region was estimated at 6.5/100 000: 4.2/100 000 for autosomal-dominant and 2.3/100 000 for autosomal recessive, 0.15/100 000 for Friedreich's ataxia and 0.4/100 000 for ataxia telangiectasia. Hereditary spastic paraplegia prevalence was 7.4/100 000: 5.5/100 000 for autosomal dominant-hereditary spastic paraplegia, 0.6/100 000 for autosomal recessive-hereditary spastic paraplegia and 1.3/100 000 for isolated subjects. Marked differences were found in the frequencies of hereditary ataxia subtypes compared with other countries, while those of the most common autosomal dominant-hereditary spastic paraplegia genotypes, SPG4, SPG3 and SPG31, were similar to those previously reported. Clear variations between age groups and counties were observed, but no gender differences. Mean age on prevalence day was 48 years, mean age at onset was 24 years. We present the largest population study performed on hereditary ataxia and hereditary spastic paraplegia prevalence and report a higher prevalence than expected. Better inclusion criteria and multiple search strategies may explain the observed differences.
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PMID:Prevalence of hereditary ataxia and spastic paraplegia in southeast Norway: a population-based study. 1933 54