Pramod Pal | NIMHANS - Academia.edu (original) (raw)

Papers by Pramod Pal

Research paper thumbnail of Structural and functional neuroimaging in patients with Parkinson’s disease and visual hallucinations: A critical review

Parkinsonism & Related Disorders, 2015

Patients with Parkinson's disease (PD) may de... more Patients with Parkinson's disease (PD) may develop various non-motor symptoms (NMS) during the course of the illness and psychosis is one of the common NMS of PD. Visual hallucinations (VH) are the most common manifestation of psychosis in PD. The exact pathogenesis of VH in patients with PD is not clearly understood. Presence of VH has been described to be associated with rapid cognitive decline and increased nursing home placements in PD patients. A large number of structural and functional neuroimaging studies have been conducted to understand the cerebral basis of VH in PD. Structural imaging studies (Voxel Based Morphometry) have reported grey matter atrophy in multiple regions of the brain such as primary visual cortex, visual association cortex, limbic regions, cholinergic structures such as pedunculopontine nucleus and substantia innominata, which conclude possible alterations of brain regions associated with functions such as visuospatial-perception, attention control and memory. Most functional neuroimaging studies (functional MRI, positron emission tomography and single photon emission computerized tomography) have reported altered activation, blood flow, or reduced metabolism in both dorsal and ventral visual pathways, which probably indicates an alteration in the normal bottom-top visual processing and the presence of an aberrant top-down visual processing. This review critically analyzes the published studies on the structural and functional neuroimaging in PD patients with VH.

Research paper thumbnail of Clinical profile of 125 patients with writer's cramp from India

The characteristics of writer's cramp (WC... more The characteristics of writer's cramp (WC) may vary according to native languages and scripts. We report the clinical profile of a large cohort of patients with WC from India. A chart review of 125 patients (F:M = 16:109) with WC seen over 10 years at the National Institute of Mental Health and Neurosciences (NIMHANS), India. The mean age of patients was 36.8 ± 14.3, the mean age at onset (AAO) of symptoms was 31.5 ± 2.7 and the mean duration of difficulty in writing was 5.3 ± 6.3. The most common presenting complaint while writing was pain in the forearm (56%), followed by tremulousness of hand (28.8%) and abnormal posturing of hand (15.2%). Along with writing difficulty, 5.6% had difficulty in typing. The mean AAO of writing difficulty was significantly earlier in women than in men (22.8 ± 3.5 vs. 32.8 ± 4.2 years, p < 0.001). While writing, excessive extension (41.6%) of wrist was the most common abnormality, followed by excessive flexion (37.6%) and extension (19.2%) of index finger. Women with WC have a significantly earlier age of onset than men. Excessive extension of wrist with flexion of thumb and index finger were the most common abnormalities noted in WC. © 2015 S. Karger AG, Basel.

Research paper thumbnail of Diabetic nonketotic hyperosmolar state: Interesting imaging observations in 2 patients with involuntary movements and seizures

Research paper thumbnail of Long term outcome of unilateral pallidotomy: follow up of 15 patients for 3 years

Research paper thumbnail of Incontinentia pigmenti with sensorimotor polyneuropathy: A novel association

Research paper thumbnail of Relaxation and Susceptibility MRI Characteristics In Hallervorden‐Spatz Syndrome

Journal of Magnetic …, 2007

HALLERVORDEN-SPATZ SYNDROME (HSS) is a meta-bolic neurodegenerative disorder characterized clini-... more HALLERVORDEN-SPATZ SYNDROME (HSS) is a meta-bolic neurodegenerative disorder characterized clini-cally by gait abnormalities, progressive dysarthria, equinovarus deformity of the feet, rigidity of the legs, progressive diminution of all voluntary movements and mental deterioration. ...

Research paper thumbnail of Pattern of Subclinical Pulmonary Dysfunctions In Parkinson's Disease and the Effect of Levodopa

Movement …, 2007

1. Samii A, Nutt JG, Ransom BR. Parkinson's disease. Lancet 2004; 363:1783–1793. 2. Alonso M... more 1. Samii A, Nutt JG, Ransom BR. Parkinson's disease. Lancet 2004; 363:1783–1793. 2. Alonso ME, Otero E, D' Regules R, Figueroa HH. Parkinson's disease: a genetic study. Can J Neurol Sci 1986;13:248–251. 3. Kachergus J, Mata IF, Hulihan M, et al. Identification of a novel ...

Research paper thumbnail of Clinical and Electrophysiological Studies In Vincristine Induced Neuropathy

Electromyography and clinical neurophysiology, 1999

Eighteen patients of lymphoma, treated with vincristine (VCR) were assessed clinically and electr... more Eighteen patients of lymphoma, treated with vincristine (VCR) were assessed clinically and electrophysiologically before and for 3 months after therapy. The earliest evidence of neuropathy was impaired ankle jerk (around 2 weeks) and the earliest symptom was paraesthesia (by 4-5 weeks). At the ...

Research paper thumbnail of In vivo Age-related Changes in Cortical, Subcortical Nuclei, and Subventricular Zone: A Diffusion Tensor Imaging Study

Gradual decline in adult stem cells over time at Subventricular zone (SVZ) may contribute to age ... more Gradual decline in adult stem cells over time at Subventricular zone (SVZ) may contribute to age related changes and neurodegenerative diseases. Study was aimed to evaluate in vivo age-related neuroimaging changes in cortical, subcortical, and SVZ. Sixty four healthy volunteers were recruited from various ongoing studies and subjects were grouped in to pediatric with age less than 18yrs (n=13, females=6) aged 11.8 ± 2.9 yrs, middle aged between 19 to 59 yrs (n=38, female=15) aged 40.4 ± 12.2yrs and elderly above 60yrs (n=13, females=6) aged 65.3 ± 6.0 yrs, subgroups. Subjects underwent MRI scanning on a 3T MR scanner and Diffusion Tensor Imaging data with 3d T1TFE data was acquired. DTI was processed using region of interest (ROI) analysis method and the results were observed at p < 0.05 corrected for multiple corrections. Cortical, WM and subcortical GM volumes were extracted using a fully automated method. The cortical volumes (grey, white & whole brain) were least in elderly and highest in pediatric group. Among subgroup analysis following subcortical nuclei significantly differed on; fractional anisotropy (FA): bilateral hippocampus, right pallidum and left amygdale & caudate; Mean diffusivity (MD): bilateral thalamus, right pallidum, left caudate & accumbens; radial diffusivity (RD): bilateral pallidum, left caudate, left thalamus and left accumbens; axial diffusivity (AD): bilateral caudate, bilateral thalamus and left accumbens. The MD, RD and AD values of at SVZ around caudate were also significantly different between subgroups. Study observes patterns of volumetric and DTI changes across normal aging. Alterations in DTI parameters in subcortical and SVZ may indicate changes in neurogenic region in aging process; however longitudinal studies are required for further validation.

Research paper thumbnail of Insights Into the Mutational History and Prevalence of SCA1 In the Indian Population Through Anchored Polymorphisms

Human genetics, 2005

There is a wide variation in prevalence of spi-nocerebellar ataxia type 1 (SCA1) in different pop... more There is a wide variation in prevalence of spi-nocerebellar ataxia type 1 (SCA1) in different popula-tions. In the present study, we observed SCA1 in $22% (37/167 families) of the autosomal dominant cerebellar ataxias (ADCAs) in the Indian population. We investi-gated the role ...

Research paper thumbnail of Decrease in Cerebral and Cerebellar Gray Matter in Essential Tremor: A Voxel-Based Morphometric Analysis under 3T MRI

Journal of Neuroimaging, 2012

ABSTRACTBACKGROUND AND PURPOSEThough routine neuroimaging is usually normal in essential tremor (... more ABSTRACTBACKGROUND AND PURPOSEThough 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.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.METHODSClinical and imaging data of 20 patients (5 women, 15 men; mean age 38.2 ± 16.5 years) of ET were collected prospectively. To determine areas of gray matter (GM) atrophy, T1W volumetric MRI data of patients were compared with 17 matched control subjects using VBM analysis with Statistical Parametric Mapping 5.Clinical and imagin...

Research paper thumbnail of Diffusion tensor imaging: Tract based spatial statistics study in essential tremor

Parkinsonism & Related Disorders, 2012

Essential tremor (ET) is a common movement disorder with motor and non-motor symptoms. We aimed t... more 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).

Research paper thumbnail of In vivo evaluation of white matter pathology in patients of progressive supranuclear palsy using TBSS

Research paper thumbnail of Direction specific preserved limits of stability in early progressive supranuclear palsy: A dynamic posturographic study

Research paper thumbnail of SCA 1, SCA 2 & SCA 3/MJD Mutations In Ataxia Syndromes In Southern India

INDIAN JOURNAL OF …, 2007

Indian J Med Res 126, November 2007, pp 465-470 ... SCA 1, SCA 2 & SCA 3/MJD mutations in ataxia ... more Indian J Med Res 126, November 2007, pp 465-470 ... SCA 1, SCA 2 & SCA 3/MJD mutations in ataxia syndromes in ... Nithin Krishna, Surendra Mohan, BS Yashavantha*, A. Rammurthy, HB Kiran Kumar, Uma Mittal** Shivani Tyagi**, Mitali Mukerji**, Sanjeev ...

Research paper thumbnail of Is There a Relationship Between Parkinson's Disease and Obsessive-Compulsive Disorder?

Parkinsonism & Related …, 2005

Obsessive-compulsive (OC) symptoms and obsessive-compulsive disorder (OCD) have been reported in ... more Obsessive-compulsive (OC) symptoms and obsessive-compulsive disorder (OCD) have been reported in Parkinson's disease (PD). This is interpreted as an indirect evidence for the involvement of frontobasal ganglia circuitry in OCD. However, the evidence for relationship between ...

Research paper thumbnail of Obsessive compulsive disorder in adults with rheumatic heart disease

Acta Neuropsychiatrica, 2007

Objective:There are considerable data on the possible association between streptococcal infection... more Objective:There are considerable data on the possible association between streptococcal infection and obsessive compulsive disorder (OCD), particularly the relation between Sydenham’s chorea (SC) and OCD. However, neuropsychiatric sequelae related to streptococcal infection are mainly reported in children. In this preliminary study, we examined prevalence of OCD in a group of adult subjects with established rheumatic heart disease (RHD). We hypothesized that the rate of OCD would be higher than the known general population rates.Method:One hundred adult subjects with RHD were evaluated for OCD and other comorbid psychiatric disorders using well-known psychiatric assessment tools. A qualified psychiatrist conducted the assessments. The diagnoses were made according to DSM-IV criteria.Results:The rate of clinical OCD and subclinical OCD was 10% and 3%, respectively (n= 13), a rate much higher than the 1–3% rate reported in general population. Of the 13 subjects, only three had a histo...

Research paper thumbnail of Early-onset cerebellar ataxia with retained tendon reflexes

Acta Neurologica Scandinavica, 1989

The authors report a clinical review of 16 childhood cases with early-onset cerebellar ataxia wit... more The authors report a clinical review of 16 childhood cases with early-onset cerebellar ataxia with retained tendon reflexes. The preservation of tendon reflexes distinguishes this disorder from Friedreich&#39;s ataxia. The mean age of onset of symptoms was 7.1 years. The main presenting symptom was abnormal gait (100%). Ataxia of gait and limbs and normal or increased tendon reflexes were found in all cases. This disorder is associated with dysarthria, pyramidal signs in the limbs, and in some instances, sensory loss. Other important differences from Friedreich&#39;s ataxia are absence of optic atrophy, diabetes mellitus, cardiomyopathy and severe skeletal deformity. Sensory nerve conduction was found to be normal, excluding one case. This finding constitutes another aspect of the syndrome different from Freidreich&#39;s ataxia. CT scans were normal in 2 of the 4 cases. The remaining two cases showed cerebellar atrophy. Inheritance is probably autosomal recessive in the majority of cases.

Research paper thumbnail of A comparative study of cardiac dysautonomia in autosomal dominant spinocerebellar ataxias and idiopathic sporadic ataxias

Acta Neurologica Scandinavica, 2009

Research paper thumbnail of A variant form of mucolipidosis IV: report on 4 patients from the Indian subcontinent

Journal of child neurology, Dec 1, 2008

The clinical manifestations and histopathologic and neuroimaging findings in 4 Indian patients wi... more The clinical manifestations and histopathologic and neuroimaging findings in 4 Indian patients with a variant form of mucolipidosis IV are described. The presenting symptoms were psychomotor delay, spastic paraplegia, and mild mental retardation. One patient also had visual deterioration due to optic atrophy. None had corneal or retinal abnormalities. Magnetic resonance imaging in 3 patients showed a uniformly thin corpus callosum in all patients and white matter changes in 2 patients. Electron microscopic ...

Research paper thumbnail of Structural and functional neuroimaging in patients with Parkinson’s disease and visual hallucinations: A critical review

Parkinsonism & Related Disorders, 2015

Patients with Parkinson&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39;s disease (PD) may de... more Patients with Parkinson&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39;s disease (PD) may develop various non-motor symptoms (NMS) during the course of the illness and psychosis is one of the common NMS of PD. Visual hallucinations (VH) are the most common manifestation of psychosis in PD. The exact pathogenesis of VH in patients with PD is not clearly understood. Presence of VH has been described to be associated with rapid cognitive decline and increased nursing home placements in PD patients. A large number of structural and functional neuroimaging studies have been conducted to understand the cerebral basis of VH in PD. Structural imaging studies (Voxel Based Morphometry) have reported grey matter atrophy in multiple regions of the brain such as primary visual cortex, visual association cortex, limbic regions, cholinergic structures such as pedunculopontine nucleus and substantia innominata, which conclude possible alterations of brain regions associated with functions such as visuospatial-perception, attention control and memory. Most functional neuroimaging studies (functional MRI, positron emission tomography and single photon emission computerized tomography) have reported altered activation, blood flow, or reduced metabolism in both dorsal and ventral visual pathways, which probably indicates an alteration in the normal bottom-top visual processing and the presence of an aberrant top-down visual processing. This review critically analyzes the published studies on the structural and functional neuroimaging in PD patients with VH.

Research paper thumbnail of Clinical profile of 125 patients with writer's cramp from India

The characteristics of writer&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39;s cramp (WC... more The characteristics of writer&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39;s cramp (WC) may vary according to native languages and scripts. We report the clinical profile of a large cohort of patients with WC from India. A chart review of 125 patients (F:M = 16:109) with WC seen over 10 years at the National Institute of Mental Health and Neurosciences (NIMHANS), India. The mean age of patients was 36.8 ± 14.3, the mean age at onset (AAO) of symptoms was 31.5 ± 2.7 and the mean duration of difficulty in writing was 5.3 ± 6.3. The most common presenting complaint while writing was pain in the forearm (56%), followed by tremulousness of hand (28.8%) and abnormal posturing of hand (15.2%). Along with writing difficulty, 5.6% had difficulty in typing. The mean AAO of writing difficulty was significantly earlier in women than in men (22.8 ± 3.5 vs. 32.8 ± 4.2 years, p &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;lt; 0.001). While writing, excessive extension (41.6%) of wrist was the most common abnormality, followed by excessive flexion (37.6%) and extension (19.2%) of index finger. Women with WC have a significantly earlier age of onset than men. Excessive extension of wrist with flexion of thumb and index finger were the most common abnormalities noted in WC. © 2015 S. Karger AG, Basel.

Research paper thumbnail of Diabetic nonketotic hyperosmolar state: Interesting imaging observations in 2 patients with involuntary movements and seizures

Research paper thumbnail of Long term outcome of unilateral pallidotomy: follow up of 15 patients for 3 years

Research paper thumbnail of Incontinentia pigmenti with sensorimotor polyneuropathy: A novel association

Research paper thumbnail of Relaxation and Susceptibility MRI Characteristics In Hallervorden‐Spatz Syndrome

Journal of Magnetic …, 2007

HALLERVORDEN-SPATZ SYNDROME (HSS) is a meta-bolic neurodegenerative disorder characterized clini-... more HALLERVORDEN-SPATZ SYNDROME (HSS) is a meta-bolic neurodegenerative disorder characterized clini-cally by gait abnormalities, progressive dysarthria, equinovarus deformity of the feet, rigidity of the legs, progressive diminution of all voluntary movements and mental deterioration. ...

Research paper thumbnail of Pattern of Subclinical Pulmonary Dysfunctions In Parkinson's Disease and the Effect of Levodopa

Movement …, 2007

1. Samii A, Nutt JG, Ransom BR. Parkinson's disease. Lancet 2004; 363:1783–1793. 2. Alonso M... more 1. Samii A, Nutt JG, Ransom BR. Parkinson's disease. Lancet 2004; 363:1783–1793. 2. Alonso ME, Otero E, D' Regules R, Figueroa HH. Parkinson's disease: a genetic study. Can J Neurol Sci 1986;13:248–251. 3. Kachergus J, Mata IF, Hulihan M, et al. Identification of a novel ...

Research paper thumbnail of Clinical and Electrophysiological Studies In Vincristine Induced Neuropathy

Electromyography and clinical neurophysiology, 1999

Eighteen patients of lymphoma, treated with vincristine (VCR) were assessed clinically and electr... more Eighteen patients of lymphoma, treated with vincristine (VCR) were assessed clinically and electrophysiologically before and for 3 months after therapy. The earliest evidence of neuropathy was impaired ankle jerk (around 2 weeks) and the earliest symptom was paraesthesia (by 4-5 weeks). At the ...

Research paper thumbnail of In vivo Age-related Changes in Cortical, Subcortical Nuclei, and Subventricular Zone: A Diffusion Tensor Imaging Study

Gradual decline in adult stem cells over time at Subventricular zone (SVZ) may contribute to age ... more Gradual decline in adult stem cells over time at Subventricular zone (SVZ) may contribute to age related changes and neurodegenerative diseases. Study was aimed to evaluate in vivo age-related neuroimaging changes in cortical, subcortical, and SVZ. Sixty four healthy volunteers were recruited from various ongoing studies and subjects were grouped in to pediatric with age less than 18yrs (n=13, females=6) aged 11.8 ± 2.9 yrs, middle aged between 19 to 59 yrs (n=38, female=15) aged 40.4 ± 12.2yrs and elderly above 60yrs (n=13, females=6) aged 65.3 ± 6.0 yrs, subgroups. Subjects underwent MRI scanning on a 3T MR scanner and Diffusion Tensor Imaging data with 3d T1TFE data was acquired. DTI was processed using region of interest (ROI) analysis method and the results were observed at p < 0.05 corrected for multiple corrections. Cortical, WM and subcortical GM volumes were extracted using a fully automated method. The cortical volumes (grey, white & whole brain) were least in elderly and highest in pediatric group. Among subgroup analysis following subcortical nuclei significantly differed on; fractional anisotropy (FA): bilateral hippocampus, right pallidum and left amygdale & caudate; Mean diffusivity (MD): bilateral thalamus, right pallidum, left caudate & accumbens; radial diffusivity (RD): bilateral pallidum, left caudate, left thalamus and left accumbens; axial diffusivity (AD): bilateral caudate, bilateral thalamus and left accumbens. The MD, RD and AD values of at SVZ around caudate were also significantly different between subgroups. Study observes patterns of volumetric and DTI changes across normal aging. Alterations in DTI parameters in subcortical and SVZ may indicate changes in neurogenic region in aging process; however longitudinal studies are required for further validation.

Research paper thumbnail of Insights Into the Mutational History and Prevalence of SCA1 In the Indian Population Through Anchored Polymorphisms

Human genetics, 2005

There is a wide variation in prevalence of spi-nocerebellar ataxia type 1 (SCA1) in different pop... more There is a wide variation in prevalence of spi-nocerebellar ataxia type 1 (SCA1) in different popula-tions. In the present study, we observed SCA1 in $22% (37/167 families) of the autosomal dominant cerebellar ataxias (ADCAs) in the Indian population. We investi-gated the role ...

Research paper thumbnail of Decrease in Cerebral and Cerebellar Gray Matter in Essential Tremor: A Voxel-Based Morphometric Analysis under 3T MRI

Journal of Neuroimaging, 2012

ABSTRACTBACKGROUND AND PURPOSEThough routine neuroimaging is usually normal in essential tremor (... more ABSTRACTBACKGROUND AND PURPOSEThough 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.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.METHODSClinical and imaging data of 20 patients (5 women, 15 men; mean age 38.2 ± 16.5 years) of ET were collected prospectively. To determine areas of gray matter (GM) atrophy, T1W volumetric MRI data of patients were compared with 17 matched control subjects using VBM analysis with Statistical Parametric Mapping 5.Clinical and imagin...

Research paper thumbnail of Diffusion tensor imaging: Tract based spatial statistics study in essential tremor

Parkinsonism & Related Disorders, 2012

Essential tremor (ET) is a common movement disorder with motor and non-motor symptoms. We aimed t... more 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).

Research paper thumbnail of In vivo evaluation of white matter pathology in patients of progressive supranuclear palsy using TBSS

Research paper thumbnail of Direction specific preserved limits of stability in early progressive supranuclear palsy: A dynamic posturographic study

Research paper thumbnail of SCA 1, SCA 2 & SCA 3/MJD Mutations In Ataxia Syndromes In Southern India

INDIAN JOURNAL OF …, 2007

Indian J Med Res 126, November 2007, pp 465-470 ... SCA 1, SCA 2 & SCA 3/MJD mutations in ataxia ... more Indian J Med Res 126, November 2007, pp 465-470 ... SCA 1, SCA 2 & SCA 3/MJD mutations in ataxia syndromes in ... Nithin Krishna, Surendra Mohan, BS Yashavantha*, A. Rammurthy, HB Kiran Kumar, Uma Mittal** Shivani Tyagi**, Mitali Mukerji**, Sanjeev ...

Research paper thumbnail of Is There a Relationship Between Parkinson's Disease and Obsessive-Compulsive Disorder?

Parkinsonism & Related …, 2005

Obsessive-compulsive (OC) symptoms and obsessive-compulsive disorder (OCD) have been reported in ... more Obsessive-compulsive (OC) symptoms and obsessive-compulsive disorder (OCD) have been reported in Parkinson's disease (PD). This is interpreted as an indirect evidence for the involvement of frontobasal ganglia circuitry in OCD. However, the evidence for relationship between ...

Research paper thumbnail of Obsessive compulsive disorder in adults with rheumatic heart disease

Acta Neuropsychiatrica, 2007

Objective:There are considerable data on the possible association between streptococcal infection... more Objective:There are considerable data on the possible association between streptococcal infection and obsessive compulsive disorder (OCD), particularly the relation between Sydenham’s chorea (SC) and OCD. However, neuropsychiatric sequelae related to streptococcal infection are mainly reported in children. In this preliminary study, we examined prevalence of OCD in a group of adult subjects with established rheumatic heart disease (RHD). We hypothesized that the rate of OCD would be higher than the known general population rates.Method:One hundred adult subjects with RHD were evaluated for OCD and other comorbid psychiatric disorders using well-known psychiatric assessment tools. A qualified psychiatrist conducted the assessments. The diagnoses were made according to DSM-IV criteria.Results:The rate of clinical OCD and subclinical OCD was 10% and 3%, respectively (n= 13), a rate much higher than the 1–3% rate reported in general population. Of the 13 subjects, only three had a histo...

Research paper thumbnail of Early-onset cerebellar ataxia with retained tendon reflexes

Acta Neurologica Scandinavica, 1989

The authors report a clinical review of 16 childhood cases with early-onset cerebellar ataxia wit... more The authors report a clinical review of 16 childhood cases with early-onset cerebellar ataxia with retained tendon reflexes. The preservation of tendon reflexes distinguishes this disorder from Friedreich&#39;s ataxia. The mean age of onset of symptoms was 7.1 years. The main presenting symptom was abnormal gait (100%). Ataxia of gait and limbs and normal or increased tendon reflexes were found in all cases. This disorder is associated with dysarthria, pyramidal signs in the limbs, and in some instances, sensory loss. Other important differences from Friedreich&#39;s ataxia are absence of optic atrophy, diabetes mellitus, cardiomyopathy and severe skeletal deformity. Sensory nerve conduction was found to be normal, excluding one case. This finding constitutes another aspect of the syndrome different from Freidreich&#39;s ataxia. CT scans were normal in 2 of the 4 cases. The remaining two cases showed cerebellar atrophy. Inheritance is probably autosomal recessive in the majority of cases.

Research paper thumbnail of A comparative study of cardiac dysautonomia in autosomal dominant spinocerebellar ataxias and idiopathic sporadic ataxias

Acta Neurologica Scandinavica, 2009

Research paper thumbnail of A variant form of mucolipidosis IV: report on 4 patients from the Indian subcontinent

Journal of child neurology, Dec 1, 2008

The clinical manifestations and histopathologic and neuroimaging findings in 4 Indian patients wi... more The clinical manifestations and histopathologic and neuroimaging findings in 4 Indian patients with a variant form of mucolipidosis IV are described. The presenting symptoms were psychomotor delay, spastic paraplegia, and mild mental retardation. One patient also had visual deterioration due to optic atrophy. None had corneal or retinal abnormalities. Magnetic resonance imaging in 3 patients showed a uniformly thin corpus callosum in all patients and white matter changes in 2 patients. Electron microscopic ...