Novel THAP1 missense variant with incomplete penetrance in a case of generalized young onset dystonia showing good response to deep brain stimulation.

We describe a case of young onset generalized dystonia, harboring a previously unreported likely pathogenic THAP1 missense variant (c.109 G > A; p.Glu37Lys) that was inherited from her unaffected father.

Expanding the spectrum of KCNJ6-related disorders: Milder phenotype with pathological startle responses.

Keppen-Lubinsky syndrome is caused by pathogenic variants in KCNJ6, which encodes the inwardly rectifying channel subfamily J6. The four confirmed cases reported to date were characterized by severe intellectual disability, global developmental delay, feeding difficulties, and dysmorphic features. All but one of the cases also had a severe form of lipodystrophy, resulting in tightly adherent facial skin and appearance of premature aging.

Reliability, feasibility and satisfaction of telemedicine evaluations for cervical dystonia.

Introduction: Telemedicine is used successfully for evaluating patients with neurologic diseases, but has not been tested in cervical dystonia (CD). CD is uniquely suited for telemedicine as the scales validated to assess its severity rely only on visual inspection. The study sought to determine reliability, feasibility and satisfaction of telemedicine visits for evaluating CD.

Patient Knowledge and Attitudes towards Genetic Testing in Parkinson's Disease Subjects with Deep Brain Stimulation.

Objectives: As genetic testing is becoming more widely commercially available for Parkinson's disease (PD) and may have implications regarding clinical outcomes for deep brain stimulation (DBS) and other therapies, we aimed to determine patient knowledge and attitudes towards genetic testing.

Methods: A sample of 88 PD subjects with bilateral STN-DBS completed a Genetic Attitudes Questionnaire (GAQ). Knowledge and attitudes towards genetic testing were assessed.

Considerations on patient-related outcomes with the use of botulinum toxins: is switching products safe?

Introduction: Botulinum toxin (BoNT) is the treatment of choice for many neurologic movement disorders, including blepharospasm, hemifacial spasm, and cervical dystonia. There are two serotypes approved for use by the US Food and Drug Administration: three brands of serotype A and one of serotype B. Many attempts have been made at establishing dose conversion ratios between brands and serotypes.

Deep Brain Stimulation in Tourette's Syndrome.

Objective: Tourette's syndrome (TS) is defined by 1 year of persistent motor and vocal tics. Often, the tics are refractory to conventional pharmacologic and psychobehavioral interventions. In these patients, deep brain stimulation (DBS) may be an appropriate intervention.

Therapeutic advances in Huntington's Disease.

Huntington's disease is a rare hereditary degenerative disease with a wide variety of symptoms that encompass movement, cognition, and behavior. The genetic mutation that causes the disease has been known for more than 20 y, and animal models have illuminated a host of intracellular derangements that occur downstream of protein translation. A number of clinical trials targeting these metabolic consequences have failed to produce a single effective therapy, although clinical trials continue.

New observations in the fragile X-associated tremor/ataxia syndrome (FXTAS) phenotype.

Purpose: Fragile X-associated tremor/ataxia syndrome (FXTAS) was originally defined as tremor, ataxia, cognitive decline, and parkinsonism in individuals who carry between 55 and 200 CGG repeats in the promoter region of the fragile X mental retardation 1 (FMR1) gene. This paper describes a series of patients who meet the definition of FXTAS who presented for care between 2009 and 2014.

Methods/results: Retrospective chart review of patients seen in the FXTAS clinic at Rush University in Chicago.