Familiäres Myoklonus-Niereninsuffizienz-Syndrom

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.

Restless legs syndrome in institutionalized elderly

“…This value is within the range of values reported by other authors: 9.8% 3 and 19% 12 . Other research 2 found a prevalence of 1.06% in Japanese elderly, which suggests that maybe racial aspects may play a role on prevalence differences.…”

“…Other researches found similar results 12,16,17 . Yet this difference is not completely understood, hormones may play a role as RLS occurs in a higher prevalence in post-menopause and during the last trimester of pregnancy 12 . Conversely, it may reflect a greater life expectation for women 18 .…”

Novel SCARB2 mutation in action myoclonus-renal failure syndrome and evaluation of SCARB2mutations in isolated AMRF features

“…We sequenced the SCARB2 gene in a previously described AMRF family [2,4]. Three of six children had AMRF and developed PME and renal failure within the first two decades of life.…”

“…In addition to common AMRF features, all affected siblings also had demyelinating polyneuropathy (PNP). PNP was diagnosed before the patients developed renal failure [4]. For detection of peripheral neuropathy, electromyography (EMG) and nerve conduction studies (NCS) and/or skin punch biopsy were performed.…”

“…In addition, patients develop end-stage renal failure (RF) requiring dialysis and/or renal transplantation [1-4]. The syndrome is considered to be an autosomal-recessive disease related to loss-of-function mutations in SCARB2 which encode a lysosomal-membrane type 2 protein, a member of the CD 36 scavenger receptor-like protein family [5,6].…”