Högl, B. and Stefani, A. (2017), Mov. Disord., 32: 669–681. doi: 10.1002/mds.26929
The diagnostic criteria for restless legs syndrome (RLS) have been continuously updated in recent years, considerably facilitating both an accurate diagnosis and appropriate management of RLS.
Periodic leg or limb movements during sleep (PLMS) are present in patients with and without RLS and can be seen as biomarkers of genetic susceptibility to RLS.
Restless legs syndrome, and eriodic leg movements during wakefulness (PLMW) were significantly higher in Friedrich’s ataxia patients with RLS than in those without. Interestingly, in most of them RLS onset was after Friedreich’s ataxia onset, and Friedreich’s ataxia patients with RLS had significantly lower ferritin levels than those without.
Substantia nigra echogenicity correlated inversely with disease severity of Friedrich’s ataxia and was significantly associated with RLS. In contrast, few Friedreich’s ataxia patients fulfilled RLS criteria.
Although the large variation of RLS frequencies reported in these patients could indicate diagnostic difficulties because of confounding symptoms, the apparent high frequency of RLS in Frie-
dreich’s ataxia and the association with disturbed brain iron metabolism is interesting and requires further study.
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