BackgroundChorea-acanthocytosis (ChAc) is a neuroacanthocytosis syndrome presenting with severe movement disorders poorly responsive to drug therapy. Case reports suggest that bilateral deep brain stimulation (DBS) of the ventro-postero-lateral internal globus pallidus (GPi) may benefit these patients. To explore this issue, the present multicentre (n=12) retrospective study collected the short and long term outcome of 15 patients who underwent DBS.MethodsData were collected in a standardized way 2-6 months preoperatively, 1-5 months (early) and 6 months or more (late) after surgery at the last follow-up visit (mean follow-up: 29.5 months).ResultsMotor severity, assessed by the Unified Huntington’s Disease Rating Scale-Motor Score, UHDRS-MS), was significantly reduced at both early and late post-surgery time points (mean improvement 54.3% and 44.1%, respectively). Functional capacity (UHDRS-Functional Capacity Score) was also significantly improved at both post-surgery time points (mean 75.5% and 73.3%, respectively), whereas incapacity (UHDRS-Independence Score) improvement reached significance at early post-surgery only (mean 37.3%). Long term significant improvement of motor symptom severity (≥20 % from baseline) was observed in 61.5 % of the patients. Chorea and dystonia improved, whereas effects on dysarthria and swallowing were variable. Parkinsonism did not improve. Linear regression analysis showed that preoperative motor severity predicted motor improvement at both post-surgery time points. The most serious adverse event was device infection and cerebral abscess, and one patient died suddenly of unclear cause, 4 years after surgery.ConclusionThis study shows that bilateral DBS of the GPi effectively reduces the severity of drug-resistant hyperkinetic movement disorders such as present in ChAc.

These observations indicate that there is an extended phenotypic overlap between McLeod syndrome and chorea-acanthocytosis.

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Background: Knowledge of functional evolution in dementia is crucial for the patients and their families as well as the clinician. Objective: This review identifies scales and outcomes used to describe the natural history of functional decline and describes the natural history of functional decline in a representative clinical population sample of published studies of patients with Alzheimer's disease (AD). Methods: A search of three relevant databases was conducted and limited to articles published in English and French between 1998 to March 2012, using the keywords "Dementia", "Activities of Daily Living", "Instrumental Activities of Daily Living", "Functional Impairment", "Prognosis", and "Disease Progression". Results: The search strategy displayed 683 articles, 20 of which were found to be related to the functional evolution of AD. In these studies, different scales were used to describe the evolution of the functional decline, except for the decline of instrumental activities, for which the Lawton scale was used in all studies. Thus, it is difficult to represent the evolution of the functional decline from a clinical point of view. Conclusion: Relatively little data are available to estimate the functional evolution of AD. A consensus with broadened thought is required to know if the progression of the incapacities in these scales is additive or hierarchical.

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