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Background and Purposes: Aim of the study was to translate the original version of the Barthel-Index (BI) into German and to investigate the reliability of the German version. In addition, a German version of the BI for postal and telephone use was developed., Methods: Data were collected in four neurological hospitals in Germany. The translation of the BI followed the protocol of the Medical Outcomes Trust. The interrater reliability of the German version of the BI was investigated in 72 patients after acute stroke. The reliability of the postal and telephone version of the BI was compared with face-to-face interview in 147 patients three months after stroke. Reliability was assessed using simple weighted kappa-statistics., Results: The interrater reliability of the German version of the BI was excellent (mean kappa 0.93). The mean kappa coefficient was 0.79 for the postal version of the BI and 0.80 for the telephone version. Thus, the agreement between the postal and the telephone administration of the BI compared to the face-to-face interview was substantial to excellent., Conclusions: Our study published the first German version of the BI which was investigated for interrater reliability in a standardized way. The development of a postal and a telephone version allows the widespread use of the German BI for the follow up of stroke patients in different access paths.

Hereditary neuralgic amyotrophy (HNA) is an autosomal-dominant inherited recurrent focal neuropathy affecting mainly the brachial plexus. In this study we report the genomic structure and mutation analysis of three candidate genes: sphingosine kinase 1 (SPHK1); tissue inhibitor of metalloproteinase 2 (TIMP2); and cytoglobin (CYGB). We did not find any disease-associated mutations, indicating that HNA is not caused by point mutations in these genes. However, we identified several sequencing errors in the cDNA of SPHK1 as well as seven novel single-nucleotide polymorphisms.

Hereditary peripheral neuropathies are the most common monogenetically inherited diseases of the nervous system. The prevalence of the Hereditary Motor and Sensory Neuropathy Type 1A (HMSN 1A or Charcot-Marie-Tooth Neuropathy 1A, CMT1A) alone is estimated to be as high as 1/5000. In 1991, a duplication on chromosome 17p11.2 was identified as the causative genetic defect of CMT1A. Since then causative mutations in 17 genes have been identified. This review summarises the clinical and molecular genetic features of primary inherited neuropathies. It is aimed primarily at clinicians and geneticists. Therefore less emphasis is placed on the pathology and the (often unknown) underlying biological disease mechanisms.

Hereditary Neuralgic Amyotrophy (HNA) is an autosomal dominantly inherited recurrent focal neuropathy affecting mainly the brachial plexus. Linkage to markers on chromosome 17q25 was found in 1996 and subsequent reports confirmed linkage of HNA to this locus. Recently a family with a chronic undulating rather than remitting-relapsing clinical course of HNA was described by a Dutch group. This family did not have linkage to the 17q25 locus. Here we describe for the first time clinically and genetically two families with classic remitting-relapsing HNA that are not linked to the previously described HNA locus on chromosome 17q25. These results demonstrate that clinically homogeneous classical HNA is genetically heterogeneous.

At the age of 5 years and 10 months a boy suffered from rapidly progressive glomerulonephritis. After 14 days of treatment with peritoneal dialysis and chlorambucil the acute renal failure was overcome and the kidneys started to function again. 3 1/2 years later 2/3 of normal values for glomerular filtration had been regained, though proteinuria is still 2,8 g/day. Histologically mainly extracapillary proliferations and a partially necrotizing glomerulonephritis were seen in the beginning. 1 1/4 years later sklerosed glomerula predominated (80%) over almost normal glomerula with only minor proliferations. The prognosis remains doubtful in spite of the benign course in the beginning.