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Objectives Creatinine ( Cr) as a marker of renal function has limited value in amyotrophic lateral sclerosis ( ALS) because patients with ALS have reduced muscle mass. Thus, there is a need for alternative methods of assessing renal function. Cystatin C (CysC), which is unaffected by muscle mass, is potentially an ideal biomarker of nephrotoxicity in ALS; however, its utility requires validation. Material and Methods One hundred and six subjects were recruited for the study: 76 ALS patients and 30 healthy controls. We compared the Cr-based estimated glomerular filtration rate ( eGFR) with the CysC-based eGFR in the ALS patients and healthy controls. The results were further analysed according to the severity of ALS in the patients. Results The mean Cr-based eGFRs were 257.2 ± 383.1 ml/min/1.73 m2 in the ALS group and 98.1 ± 34.9 in the control group; however, the mean CysC-based eGFRs were not significantly different between both groups. Thus, the Cr-based eGFR in the ALS group was markedly higher than any of the other values. Although serum CysC levels did not correlate with the severity of ALS according to the ALS Functional Rating Scale-Revised, strong simple correlations were observed between serum Cr levels and the severity of ALS (correlation coefficient = 0.734, P < 0.001). Conclusions This study demonstrates the potential usefulness of CysC as a biomarker of renal function in ALS patients. Furthermore, its applicability could be extended to other neuromuscular diseases. [ABSTRACT FROM AUTHOR]

Namekawa M, Takiyama Y, Sakoe K, Nagaki H, Shimazaki H, Yoshimura M, Ikeguchi K, Nakano I, Nishizawa M. A Japanese SPG4 family with a novel missense mutation of the SPG4 gene: intrafamilial variability in age at onset and clinical severity. Acta Neurol Scand 2002: 106: 387–391. © Blackwell Munksgaard 2002. Objectives – We report the results of clinical and genetic studies on a Japanese SPG4 family. Material and methods – Family N included eight patients in four generations with autosomal dominant transmission. We performed neurological and molecular analyses on the SPG4 gene in the family members comprising three patients, 12 at-risk individuals, and three normal spouses. Results – The three patients showed pure spastic paraplegia, two of them exhibiting a decrease in vibration sense. There was marked intrafamilial variability in age at onset and clinical severity in the present family. On molecular analysis, a novel missense mutation (nt1579 C→T) in exon 12 of the SPG4 gene was found in the three patients, three probably affected, and an asymptomatic carrier. Conclusion – The present SPG4 family, which was shown to have a novel SPG4 mutation, exhibited marked variability in the clinical features, indicating the participation of additional factors in the phenotypic appearance of this family. [ABSTRACT FROM AUTHOR]

Objectives – To obtain a simple and reliable clinical parameter for the diagnosis of multiple sclerosis among patients with neurological diseases. Patients and methods – Heparinized peripheral blood was obtained from patients with multiple sclerosis and those with non‐inflammatory neurological diseases and healthy volunteers. A new enzyme immunoassay method determining medullasin levels in human granulocytes was developed by using mouse monoclonal antibody against medullasin. Results – A newly developed enzyme immunoassay method for medullasin can detect as little as 1 ng/ml medullasin and results can be obtained within 2 h. Eighty‐five out of 112 patients with multiple sclerosis (75.8%) showed positive results (above means of normals+2 SD) in the medullasin test, while 15.4% (12/78) of patients with non‐inflammatory neurological disease had positive results. Conclusion – This newly developed enzyme immunoassay method for medullasin is considered to be a useful paraclinical test for the diagnosis of multiple sclerosis. [ABSTRACT FROM AUTHOR]

A 74-year-old man developed abnormal forgetfulness, soon followed by unstable speech content and marked disorientation. At 77 years of age, the patient started to occasionally fall, an aspect of progressive supranuclear palsy. He then became bedridden. The patient eventually died of pneumonia at 79 years of age. Neuropathological examination revealed profiles of both progressive supranuclear palsy and Alzheimer's disease. Although the two conditions both belong to tauopathy, their pathologically proven combination was rare. Furthermore, the case had the possibility of being a subgroup of tauopathy. [ABSTRACT FROM AUTHOR]