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  • 1
    ISSN: 1433-0407
    Keywords: Schlüsselwörter SCA7 ; CAG-Repeat ; Ataxie ; Makuladegeneration ; Keywords SCA7 ; Anticipation ; CAG repeat ; Ataxia ; Macular degeneration
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Abstract Spinocerebellar ataxia type 7 (SCA7) belongs to the category of autosomal dominant cerebellar ataxias (ADCA). The clinical picture is characterised by progressive ataxia and macular degeneration. Other common signs are slow saccades, external ophthalmoplegia, and pyramidal tract signs. The disease is caused by the expansion of an unstable CAG trinucleotide repeat in the gene for ataxin 7 on chromosome 3. SCA7 is a rare disorder. The first case in Germany was described only recently. We report two additional patients, father and son, with the molecular genetic diagnosis of SCA7. The father carries a trinucleotide expansion of 42 CAG repeats, the son 51. Normal alleles range from 7 to 35 CAG repeats. Both patients show the typical picture with progressive ataxia and macular degeneration. We found a pronounced anticipation (earlier disease onset in subsequent generations), which is highly characteristic of CAG repeat disorders.
    Notes: Zusammenfassung Die spinozerebelläre Ataxie Typ 7 (SCA7) gehört zu den autosomal-dominanten zerebellären Ataxien (ADCA). Klinisch zeichnet sich die SCA7 durch eine Kombination von progressiver Ataxie und Makuladegeneration aus, darüber hinaus können weitere Symptome wie z. B. Okulomotorikstörungen und Pyramidenbahnzeichen auftreten. Molekulargenetisch liegt der Erkrankung eine CAG-Repeat-Verlängerung im Gen für Ataxin 7 auf Chromosom 3 zugrunde. Die SCA7 ist eine seltene Erkrankung, erst kürzlich wurde der erste Fall in Deutschland beschrieben. Wir berichten über 2 weitere Patienten, Vater und Sohn, mit molekulargenetisch gesicherter SCA7. Es fand sich eine Verlängerung der betreffenden CAG-ä liegt zwischen 7 und 35 CAG-Repeateinheiten. Beide Patienten zeigen das charakteristische klinische Bild mit zerebellärer Ataxie und Makuladegeneration. Darüber hinaus besteht eine ausgeprägte Antizipation (früheres Erkrankungsalter in den Folgegenerationen), was für die sog. CAG-Repeat-Erkrankungen typisch ist.
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1434-0879
    Keywords: Bladder neoplasms ; Flow cytometry ; Fluorescence in situ hybridization ; Chromosome Y ; Chromosome X ; Chromosome 1 ; Chromosome 7 ; Chromosome 9 ; Chromosome 17 ; Aneuploidy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Detection of molecular alterations is of potential significance for diagnosis and prognosis in bladder cancer. Fluorescence in situ hybridization (FISH) allows visualization and quantitation of genes and chromosomes on a cell by cell level and can easily be applied to urinary cells. To evaluate the sensitivity of FISH for detection of DNA aberrations in bladder cancer, formalin-fixed tissues of 293 tumors were examined by FISH and flow cytometry (FCM). Centromere probes for the chromosomes X, Y, 1, 7, 9, and 17 were used for FISH analysis. FISH was more sensitive for detection of quantitative DNA aberrations than FCM. An aberration of at least one chromosome was found in 107 of 108 tumors (99%), which were tetraploid, aneuploid, or multiploid, and in 29 of 49 tumors (59%), which were diploid, by FCM. The frequency of FISH aberrations showed greater differences between pTa (47%) and pT1 tumors (85%;P〈0.0001) than between stages pT1 and pT2-4 (98%). The marked genetic difference between pTa and pT1 tumors argues against the concept of grouping pTa and pT1 tumors together as “superficial bladder cancer.” The frequency of tumors with chromosomal aberrations detected by FISH increased with the number of chromosomes examined. Aneusomy was seen in 68% of grade 1 tumors examined for ≥4 chromosomes, suggesting that the cytological diagnosis of bladder cancer recurrences could be substantially improved by FISH.
    Type of Medium: Electronic Resource
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