mutation - Novel phenotypic presentation mimicking idiopathic Parkinson's disease.

• mutations can present as asymmetric parkinsonism mimicking idiopathic Parkinson's disease,• mutation must be considered in Early onset Parkinson's disease even with a negative family history.•Parkinsonism with mutations has shown good to moderate response to dopamine.

Adult-Onset Neuronal Ceroid Lipofuscinosis: Variant Presenting as Focal Dystonia.

Background: Neuronal ceroid lipofuscinosis (NCL) is a rare hereditary lysosomal storage disorder causing neuronal loss and progressive neurodegeneration. variants cause varied phenotypic presentations.

Case Report: A 49-year-old male presented with late adult-onset progressive focal right lower limb dystonia.

Aceruloplasminemia with Novel Mutation, with IgG4 Related Pachymeningitis - Occam's Razor or Hickam's Dictum?

To report a patient with concomitant aceruloplasminemia (with a novel mutation) and IgG4-related pachymeningitis and to hypothesize on the possible relation between the two diseases. Clinical, radiological, and laboratory features of a 56-year-old lady with chronic headache, bifacial palsy, and cerebellar signs are described. Pathophysiology of aceruloplasminemia leading to hyperferritinemia and consequent immune activation is elucidated.

Dystonia Deafness Syndrome: A Rare Deep Brain Stimulation Responsive Dystonia.

Dystonia deafness syndrome (DDS) is a rare syndrome characterized by childhood onset sensorineural deafness followed by adult-onset dystonia. We here report the first case of DDS from India caused by gene mutation presented with deafness, generalized dystonia and scoliosis who showed improvement after Deep brain stimulation.

Changes in Optimal Stimulation Frequency with Time for Gait Disturbances in Patients with PD after STN-DBS-A Longitudinal Study.

Aim: To assess the changes in frequency parameters of STN-DBS stimulation over 6 months required to optimize gait in PD patients.

Methods: It's a single center, open label longitudinal study of PD patients after STN-DBS with gait disorders. Gait assessment using stand-walk-sit (SWS) test and freezing of gait (FOG) scores were done at baseline and after 6 months.