Compound heterozygous variants in Wiskott-Aldrich syndrome like (WASL) gene segregating in a family with early onset Parkinson's disease.

Background: Knowledge of genetic determinants in Parkinson's disease is still limited. Familial forms of the disease continue to provide a rich resource to capture the genetic spectrum in disease pathogenesis, and this approach is exploited in this study.

Methods: Informative members from a three-generation family of Indian ethnicity manifesting a likely autosomal recessive mode of inheritance of Parkinson's disease were used for whole exome sequencing.

Functional Movement Disorders in Children.

Functional movement disorders (FMDs) are not uncommon in children. The age at onset may have a bearing on the phenomenological pattern of abnormal movement, risk factors, and response to different treatment modalities in this age group. FMDs in children resemble their adult counterparts in terms of gender preponderance, but risk factors are quite different, and often influenced by cultural and demographic background.

Clinical Spectrum of Drug-Induced Movement Disorders: A Study of 97 Patients.

Background: Drug-induced movement disorders (DIMDs) are commonly encountered, but an often-under-reported subgroup of movement disorders.

Objectives: We aimed to highlight the spectrum of DIMDs in patients taking different groups of drugs at our movement disorder center.

Methods: It is a cross-sectional descriptive study including 97 consecutive DIMDs patients diagnosed over the past two years (2017-2019).

The Spectrum of Repetitive Behaviors Associated With Subacute Sclerosing Panencephalitis.

Background: Repetitive behaviors refer to a broad class of responses ranging from stereotypic body movements to impulsive/compulsive behaviors. They may be associated with neurological disorders.

Methods: This is a case series of six subacute sclerosing panencephalitis (SSPE) patients who presented with a wide spectrum of repetitive motor behaviors and vocalizations.

The Problem of Questionable Dystonia in the Diagnosis of 'Essential Tremor-Plus'.

In a recent consensus statement on tremor, the task force of the International Parkinson and Movement Disorder Society proposed a new term, 'essential tremor-plus (ET-plus)' which includes patients with the characteristics of essential tremor (ET) and additional soft neurological signs of uncertain significance such as questionable dystonic posturing. The clinical interpretation of questionable dystonia has been left to the investigator. The consensus statement also stated that the ET-plus syndrome does not include other clearly defined syndromes like dystonic tremor.

Novel and reported variants in Parkinson's disease genes confer high disease burden among Indians.

Background: Genetic heterogeneity in Parkinson's disease (PD) has been unambiguously reported across different populations. Assuming a higher genetic load, we tested variant burden in PD genes to an early onset PD cohort from India.

Methods: Whole exome sequencing was performed in 250 PD patients recruited following MDS-UPDRS criteria.

Blepharospasm With Photophobia Secondary to Midbrain Tuberculoma and Thalamic Infarct.

Introduction: Blepharospasm is a type of focal dystonia and categorized into primary and secondary forms, based on whether or not a cause can be established. Secondary blepharospasm is uncommon and can be associated with underlying brain lesions. Photophobia is a prominent complaint in blepharospasm patients.

Rest tremor in dystonia: epidemiology, differential diagnosis, and pathophysiology.

Background: The most common type of tremor reported in dystonia patients is postural and kinetic. There is uncertainty regarding the prevalence of rest tremor in dystonia.

Objective: This review focuses on the clinical and neurophysiological features of rest tremor in dystonia, its differential diagnosis, and methods to distinguish it from other rest tremor syndromes.

Functional Movement Disorders in Elderly.

Background: Functional movement disorders (FMDs) have been rarely described in the elderly population.

Methods: This is a retrospective chart review of elderly patients with FMDs (onset >60 years) attending the movement disorders clinic at a tertiary care teaching institute in India.

Results: Out of 117 patients diagnosed with FMD at our center, 18 patients had an onset after the age of 60 years.

Expanding the canvas of PRKN mutations in familial and early-onset Parkinson disease.

Background: Mutations in PRKN (PARK2) are commonly encountered in early-onset Parkinson disease (PD).

Objectives: To screen for PRKN mutations in a clinically well-characterized cohort of early-onset PD patients with a family history (FEOPD; ≤50 years at onset) or sporadic (SEOPD; ≤50 years at onset) and late-onset familial patients (FLOPD; >50 years at onset).

Methods: A total of 97 patients including 52 SEOPD and 45 familial PD (FEOPD: 23; FLOPD: 22) were screened for variants in PRKN by PCR- Sanger sequencing.

Progress in Pharmacological and Surgical Management of Tourette Syndrome and Other Chronic Tic Disorders.

Background: Tourette syndrome (TS) and other chronic tic disorders are clinically heterogenous and cause physical discomfort, social difficulties, and emotional distress. In addition to tics, TS patients have a variety of behavioral comorbidities, including obsessive-compulsive disorders and attention-deficit hyperactivity disorders. TS treatment is multidisciplinary, involving behavioral therapy, oral medications, and botulinum toxin injections.