Is deep brain stimulation effective in Huntington's Disease? - a systematic literature review.

Introduction: Huntington's Disease (HD) is an autosomal dominant neurodegenerative disorder. Substantial for a diagnosis of the disease are motor disorders, with chorea as a hallmark symptom. Other disease manifestations include cognitive dysfunction and psychiatric disorders.

Blocking Tics in Gilles de la Tourette Syndrome.

Patients with Gilles de la Tourette syndrome (GTS) may experience blocking tics (BTs) defined as recurrent, brief cessations of motor acts. The aim of this study was to assess the prevalence, age of onset, and clinical correlates of BTs in GTS patients. We performed a one-time registration study in a cohort of 195 consecutive GTS patients aged 5-66 years (mean age: 15.

Tonic Tics in Gilles de la Tourette Syndrome.

Aim: Tonic tics (TTs) are a part of a clinical picture of Gilles de la Tourette syndrome (GTS) and manifest themselves as sustained and isometric contraction of a muscle group devoid of the movement effect or accompanied by only slight visible motion. The aim of this study was to evaluate the prevalence and phenomenology of TTs, and to assess the clinical associations of TTs with tic severity and comorbidities in patients with GTS.

Methods: We performed a one-time registration study in a cohort of 241 consecutive outpatients with GTS aged 5 to 50 years (188 males, 153 patients under the age of 18 years).

Clinical phenotype heterogeneity in a family with ε-sarcoglycan gene mutation.

Aim Of The Study: This paper describes six cases of patients with myoclonus-dystonia syndrome who are members of a family in which an SGCE gene mutation has been confirmed.

Clinical Rationale For The Study: Myoclonus-dystonia syndrome is a very rare disease, with an incidence in Europe of about 2 in every million. Due to the fact that only a few case reports of this illness are accessible in the literature, the material we collected seems to be valuable for clinical practice.