High-throughput next-generation sequencing can identify disease-causing mutations in extremely heterogeneous disorders. Kara et al . investigate a series of 97 index cases with complex hereditary spastic paraplegia (HSP). They identify SPG11 defects in 30 families, as well as mutations in other HSP genes and genes associated with disorders including Parkinson’s disease.

A high proportion of FRDA patients have a decreased serum CoQ(10) level which was the best predictor of a positive clinical response to CoQ(10)/vitamin E therapy. Low and high dose CoQ(10)/vitamin E therapies were equally effective in improving ICARS scores.

Background: Psychogenic blepharospasm is difficult to distinguish clinically from benign essential

Clinicians require scientifically rigorous, clinically meaningful rating scales to evaluate the health impact of disease and treatment that cannot be measured using conventional laboratory instruments. This study evaluated the psychometric properties of the International Cooperative Ataxia Rating Scale (ICARS), a commonly used clinician-rated measure, in Friedreich's ataxia (FRDA). People with confirmed FRDA were assessed by using the ICARS. Two assumptions of its measurement model were tested: the legitimacy of reporting ICARS scores in FRDA, and the acceptability, reliability, and validity of total and subscale scores. Seventy-seven people with FRDA were assessed. The ICARS total score effectively satisfied all psychometric criteria tested. The posture and gait disturbances subscale also performed well. The other three subscales did not pass standard criteria for tests of scaling assumptions, reliability, and validity. This small study recommends only the use of the ICARS total score as a measure of FRDA. However, the extent to which this score quantifies the true extent of FRDA remains uncertain as our validity testing was limited, partly by the lack of appropriate validating measures. Further validity testing, and examination of responsiveness, is required before the ICARS can be recommended as an outcome measure for treatment trials of FDRA.