Literature DB >> 11519206

[Familial myoclonus-renal failure syndrome].

A J Rothdach1, T Dietl, T Kümpfel, M Gottschalk, E M Schumann, C Trenkwalder.   

Abstract

In 1986 Andermann et al. described a syndrome presenting with renal failure, myoclonus, cerebellar symptoms, and epilepsy. They presumed a hereditary cause. We describe the first appearance of this syndrome in Europe, affecting three family members with comparable symptoms. Two of these patients were treated by us, and the third, already decreased, is described according to the available reports. The first clinical symptoms were manifested between the ages of 14 and 20. A female patient suffered from compensated kidney insufficiency and her two brothers aged 18 and 26 required dialysis. Biopsy of kidney tissue revealed nonspecific nephritis. All cases showed a cerebellar syndrome and action myoclonus. Two of them were diagnosed with epilepsy and grand mal seizures, and all suffered from demyelinizing or mixed polyneuropathy. Anamnesis of the family seems to indicate autosomal recessive inheritance.

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Year:  2001        PMID: 11519206     DOI: 10.1007/s001150170065

Source DB:  PubMed          Journal:  Nervenarzt        ISSN: 0028-2804            Impact factor:   1.214


  2 in total

1.  Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis.

Authors:  Samuel F Berkovic; Leanne M Dibbens; Alicia Oshlack; Jeremy D Silver; Marina Katerelos; Danya F Vears; Renate Lüllmann-Rauch; Judith Blanz; Ke Wei Zhang; Jim Stankovich; Renate M Kalnins; John P Dowling; Eva Andermann; Frederick Andermann; Enrico Faldini; Rudi D'Hooge; Lata Vadlamudi; Richard A Macdonell; Bree L Hodgson; Marta A Bayly; Judy Savige; John C Mulley; Gordon K Smyth; David A Power; Paul Saftig; Melanie Bahlo
Journal:  Am J Hum Genet       Date:  2008-02-28       Impact factor: 11.025

2.  Novel SCARB2 mutation in action myoclonus-renal failure syndrome and evaluation of SCARB2 mutations in isolated AMRF features.

Authors:  Franziska Hopfner; Barbara Schormair; Franziska Knauf; Achim Berthele; Thomas R Tölle; Ralf Baron; Christoph Maier; Rolf-Detlef Treede; Andreas Binder; Claudia Sommer; Christian Maihöfner; Wolfram Kunz; Friedrich Zimprich; Uwe Heemann; Arne Pfeufer; Michael Näbauer; Stefan Kääb; Barbara Nowak; Christian Gieger; Peter Lichtner; Claudia Trenkwalder; Konrad Oexle; Juliane Winkelmann
Journal:  BMC Neurol       Date:  2011-10-27       Impact factor: 2.474

  2 in total

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