Neonatal systemic gene therapy restores cardiorespiratory function in a rat model of Pompe disease.

Absence of functional acid-α-glucosidase (GAA) leads to early-onset Pompe disease with cardiorespiratory and neuromuscular failure. A novel Pompe rat model ( ) was used to test the hypothesis that neonatal gene therapy with adeno-associated virus serotype 9 (AAV9) restores cardiorespiratory neuromuscular function across the lifespan. Temporal vein administration of AAV9-DES-GAA or sham (saline) injection was done on post-natal day 1; rats were studied at 6-12 months old.

Prevalence of Cognitive Impairment and Dementia After Intracerebral Hemorrhage.

Objective: To study the prevalence of cognitive impairment in survivors of intracerebral hemorrhage (ICH).

Methods: Survivors of spontaneous ICH were followed up in the neurology outpatient department when they reported for follow-up after 6 months. Neuroimaging records at the onset and at follow-up visits are studied for the location of ICH, volume of ICH, intraventricular extension, and hydrocephalus.

A Rare Charcot Neuro-Osteoarthropathy of Hip with an Uncommon Cause.

Neuro-osteoarthropathy often called as Charcot joint results from decreased sensory innervations of the involved joint resulting in severely damaged and disrupted joints and involvement of adjacent soft tissues. Charcot joint is characterized by the "6Ds," which are i) distended joints, ii) density increase, iii) debris production, iv) dislocation, v) disorganization, and vi) destruction. Hip joint involvement is very rare probably because of rich nerve supply compared with other peripheral joints.

Frontotemporal Dementia - Current Concepts.

Frontotemporal dementia (FTD) is an entity that includes a group of neurodegenerative disease with symptoms predominantly pertaining to deficits in behavior, executive function (or) language. FTD is one of the most common type of dementia before 65 years of age and is one of the most underdiagnosed dementia as most often the symptoms overlap with psychiatric manifestations. Based on the clinical features, FTD is further subdivided into behavioral variant FTD (Bv-FTD) and primary progressive dementia (PPA).

Neurological Melioidosis Presenting as Rhombencephalitis, Optic Neuritis, and Scalp Abscess with Meningitis: A Case Series from Southern India.

Melioidosis is an under recognized infectious disease which may rarely present with neurological involvement. Neurological melioidosis has protean manifestations, and in this case series we present 3 patients diagnosed from a single center in southern India. The clinical presentation of the patients we describe includes rhomb-encephalitis, scalp infection with subdural and meningeal involvement, and optic neuritis associated with pulmonary melioidosis.

Lipid transfer proteins and instructive regulation of lipid kinase activities: Implications for inositol lipid signaling and disease.

Cellular membranes are critical platforms for intracellular signaling that involve complex interfaces between lipids and proteins, and a web of interactions between a multitude of lipid metabolic pathways. Membrane lipids impart structural and functional information in this regulatory circuit that encompass biophysical parameters such as membrane thickness and fluidity, as well as chaperoning the interactions of protein binding partners. Phosphatidylinositol and its phosphorylated derivatives, the phosphoinositides, play key roles in intracellular membrane signaling, and these involvements are translated into an impressively diverse set of biological outcomes.

Socioeconomic consequences of drug-resistant epilepsy in an adult cohort from southern India.

Objective: The objective of this study was to describe the socioeconomic consequences of drug-resistant epilepsy (DRE).

Methods: This study comprised 132 (equal males and females) consecutive patients aged ≥18 years, who fulfilled the International League Against Epilepsy (ILAE) definition for DRE, prospectively seen in a tertiary care center in South India. We used a structured questionnaire to gather relevant information.

Sex-chromosome dosage effects on gene expression in humans.

A fundamental question in the biology of sex differences has eluded direct study in humans: How does sex-chromosome dosage (SCD) shape genome function? To address this, we developed a systematic map of SCD effects on gene function by analyzing genome-wide expression data in humans with diverse sex-chromosome aneuploidies (XO, XXX, XXY, XYY, and XXYY). For sex chromosomes, we demonstrate a pattern of obligate dosage sensitivity among evolutionarily preserved X-Y homologs and update prevailing theoretical models for SCD compensation by detecting X-linked genes that increase expression with decreasing X- and/or Y-chromosome dosage. We further show that SCD-sensitive sex-chromosome genes regulate specific coexpression networks of SCD-sensitive autosomal genes with critical cellular functions and a demonstrable potential to mediate previously documented SCD effects on disease.

Clinical mimics of acute appendicitis: Is there any role of imaging?

Acute appendicitis (AA) is a common surgical emergency. Accurate and timely diagnosis of AA is essential for successful outcome. Imaging plays an important role in the diagnosis, exclusion of AA as well as diagnosing alternative clinical conditions which can closely simulate AA.

Are patients with limb and head tremor a clinically distinct subtype of essential tremor?

Background: Essential tremor (ET) is the most common tremor disorder in adults. In addition to upper limbs, the tremor in ET may also involve head, jaw, voice, tongue, and trunk. Though head tremor (HT) is commonly present in patients with ET, large comparative studies of ET patients with HT (HT+) and without HT (HT-) are few.

Multimodal evoked potentials in spinocerebellar ataxia types 1, 2, and 3.

Aims: Spinocerebellar ataxias (SCA) are a clinically heterogeneous group of disorders that are characterized by ataxia and an autosomal dominant pattern of inheritance. The aim of our study was to describe the findings of evoked potentials (EPs) among genetically proven SCA types 1, 2, and 3 and to additionally evaluate if EPs can be used to differentiate between them.

Materials And Methods: Forty-three cases of genetically proven SCA (SCA1 = 19, SCA2 = 13, and SCA3 = 11) were evaluated with median somatosensory-EP (mSSEP), visual-EP (VEP), and brainstem auditory-evoked response (BAER) by standard procedures and compared with normative laboratory data.

Niemann-Pick disease type C or Gaucher's disease type 3? A clinical conundrum.

We describe a patient who presented with a neurovisceral syndrome characterised by ataxia, bulbar dysfunction, supranuclear gaze palsy, splenomegaly and foamy histiocytes in the bone marrow. This presentation was suggestive of a lysosomal storage disorder such as Niemann-Pick disease type C or Gaucher's disease type 3. We review the presentation of these disorders, with a focus on the neurological features.

Bilateral medial medullary syndrome secondary to Takayasu arteritis.

Medial medullary syndrome (MMS) is a rare type of stroke which results due to occlusion of the anterior spinal artery or vertebral artery or its branches. In this case report we present a patient who developed MMS secondary to Takayasu arteritis (TA). TA is a chronic inflammatory arteritis primarily involving the arch of aorta and its branches, which in our patient resulted in occlusion of subclavian arteries as well as infarction of the medial medulla bilaterally.

Calcified embolism: a rare cause of cerebral infarction.

Calcified cerebral emboli (CCE) are a rare cause of stroke and these emboli can be identified on a CT scan of the brain performed for the initial evaluation of stroke. In this report we present a patient who developed a CCE following cardiac catheterisation that lodged in the left middle cerebral artery with resultant right hemiparesis and aphasia. The calcified embolus was seen on CT but could not be identified on MRI.

Quality of life and its determinants in essential tremor.

Introduction: Despite Essential Tremor (ET) being the commonest movement disorder, there are few studies on the quality of life (QOL) in patients with ET, with most studies employing generic questionnaires.

Methods: We studied QOL in 50 patients with ET attending the outpatient of a hospital using the Quality of life in Essential Tremor (QUEST) questionnaire a disease specific QOL instrument. The severity of tremor was assessed using a modified Fahn Tolosa Marin tremor rating scale (mFTMRS), co morbid anxiety and depression were studied using the Hamilton Anxiety (HARS) and Depression (HDRS) rating scales respectively.

Diffusion tensor imaging: tract based spatial statistics study in essential tremor.

Introduction: Essential tremor (ET) is a common movement disorder with motor and non-motor symptoms. We aimed to investigate the neurodegenerative changes in the brain white matter of patients with ET using Diffusion Tensor Imaging (DTI).

Methods: Clinical and MRI data from 20 patients (5 women and 15 men; age-38.

Essential tremor: beyond the motor features.

There is a growing evidence to suggest that apart from motor features, patients with Essential Tremor (ET) may have significant non-motor features. This review critically analyzes the available evidence of the various non-motor symptoms in patients with ET. Apart from tremor, patients with ET have been reported to have: (i) cognitive abnormalities characterized by mild frontal dysfunction that may have a functional impact, (ii) an association with dementia (both prevalent and incident) among those with late onset of tremor (>65 years), (iii) a higher prevalence of anxiety and an anxious and worrisome personality type, (iv) depressive symptomatology and may even have depression as a premotor symptom, (v) poor sleep quality and (vi) subjective hearing impairment.

Decrease in cerebral and cerebellar gray matter in essential tremor: a voxel-based morphometric analysis under 3T MRI.

Background And Purpose: Though routine neuroimaging is usually normal in essential tremor (ET) there is clinical evidence of widespread involvement of central nervous system. This study aimed at determining morphological changes in brain of patients with ET using voxel-based morphometry (VBM) analysis and also compare the subtypes of ET.

Methods: Clinical and imaging data of 20 patients (5 women, 15 men; mean age 38.