Vinay Goyal

Absence/rarity of commonly reported LRRK2 mutations in Indian Parkinson's disease patients

Recent discovery of pathogenic mutations in the leucine-rich repeat kinase 2 (LRRK2) gene in Parkinsons disease (PD) patients in different ethnic groups have raised a hope of diagnostic screening and genetic counseling. We investigated the six most commonly reported mutations in LRRK2 gene among Indian PD patients, using PCR-RFLP method. Mutations G2019S, R1441C, R1441G, and R1441H were screened in 1012 individuals (PD, 800; controls, 212) while mutations I2012T and I2020T were screened in 748 PD patients. We did not observe any of these six mutations in this study sample except in a single female young onset PD patient who showed a heterozygous G2019S mutation. The absence of mutations was reconfirmed by sequencing of probands from several autosomal dominant PD families. Our observations suggest that these mutations may be a rare cause of PD among Indians and therefore of little help for diagnostic screening and genetic counseling for Indian PD patients.

“Hot cross bun” sign in two patients with multiple system atrophy-cerebellar

The “hot cross bun” sign is characterized by cross-shaped T2 signal hyperintensity within the pons and has been said to be specific although not pathognomonic for multiple system …

Predictors of caregivers’ burden of Parkinson’s disease in India: experience of a tertiary care center in India

0.275 to 0.790), high UPDRS-motor scores (beta = 0.255, 95% CI: 0.108 to 0.532), and presence of sleep disturbances in the atient (beta = 0.206, 95% CI: 0.817 to 11.823) were associated with increased caregiver burden and the presence of multiple caregivers was associated with lower caregiver burden (beta = −0.311, 95% CI: −10.155 to −3.436). Conclusion: The total number of caregivers was found to be an important predictor for reducing CB. Multiple caregivers is a phenomenon which has not been studied till now. Other factors which were found to have adverse predictive effect on caregiver burden are presence of depression, high UPDRS-motor scores, and sleep disturbances in patients.

Pallido-pyramidal syndrome with blepharospasm and good response to levodopa.

Sirs: Pallido-pyramidal syndrome (PPS) is a rare entity. It was first reported by Davidson in 1954 [1] and so far only 19 cases have been described [3–8]. PPS has extrapyramidal, pyramidal and rarely cerebellar features and presents in young adulthood. The extrapyramidal features include bradykinesia and cogwheel rigidity in 80 % of patients. Pill-rolling tremor, hypomimia, hypophonia, stooped posture, striatal toes and equinovarus deformity may be noted. The pyramidal features include paraparesis, scissoring of gait, Babinski’s sign, hyperreflexia and pseudobulbar affect. Positron emission tomography has demonstrated striatal dopaminergic denervation [5]. The response to levodopa is very good in these patients. We report a case of PPS who had significant blepharospasm and showed significant response to levodopa. A 22 year old housewife presented with history of progressive bradykinesia and stiffness of all four limbs from the age of 12 years. This initially manifested in the form of short stepped gait with reduced arm swing followed by slowness in her activity of daily living, which progressed very slowly over a period of next eight years, though she remained fully independent. For the last two years she had developed significant blepharospasm along with rapid worsening of bradykinesia, stiffness and postural instability confining her to bed. For the last one year she had also developed frequency, urgency and precipitancy of urine along with ankle clonus. There was no history of cognitive decline, seizures, myoclonus, ataxia, limb weakness or diurnal variation of symptoms. There was no past history of intake of antipsychotic or antiemetic drugs, exposure to pesticide, jaundice or febrile encephalopathy. She was born of a consanguineous union, her parents being first cousins. However, no other family members had similar or other neurological or psychiatric illness. On examination she was alert and well oriented. Her blood pressure was normal without significant postural drop. She had mask like face with frequent blepharospasm. There was no Kayser-Fleischer ring. Higher mental functions including cognitive functions were normal. Her speech was hypophonic and monotonous. Ocular movement examination revealed slow saccades and broken pursuit. She had generalized rigidity of all four limbs as well as axial musculature with normal power across all joints. Deep tendon reflexes were brisk with ankle clonus and extensor plantar response, suggestive of pyramidal involvement. Sensory was normal. Patient had mild cerebellar signs in form of intension tremor in hands. She had short stepped gait with reduced arm swing and severe postural instability. Investigations revealed normal hemogram, renal and liver function tests. Serum calcium, phosphate, alkaline phosphatase, copper, ceruloplasmin and 24 hour urinary copper excretion were within normal limits. Three peripheral smears on different days did not reveal acanthocytes. Serum pyruvate and lactate levels were done to exclude mitochondrial disorders and found to be within normal limit. The vasculitis profile was normal. MRI of the brain revealed bilateral basal ganglion calcification, and that of cervical spine and cranio-vertebral junction did not reveal any abnormality. Electrophysiological studies showed normal visual, brainstem auditory, somatosensory and motor evoked potentials and central motor conduction time. Tc99m single photon emission computerized tomography was normal. Test for parkin mutation could not be done. UPDRS (Unified Parkinson’s Disease rating Scale) motor score improved from baseline 48 to 21 with levodopa. Though, bradykinesia and blepharospasm improved markedly with low dose of levodopa (300 mg levodopa + 75 mg carbidopa/day) she developed dyskinesia after a week. Dose of levodopa + carbidopa was therefore reduced to half, dyskinesia ameliorated and she maintained improvement. There was no improvement of clonus. Based on the clinical picture consisting of combination of pyramidal and extrapyramidal features and response to levodopa, she was diagnosed as pallido-pyramidal syndrome. Pallido-pyramidal syndrome is manifested by a combination of symptoms of parkinsonism of early onset and pyramidal tract signs. Our patient had bradykinesia, rigidity and pyramidal tract signs, which started at the age of 12 years. A close differential diagnosis of pallido-pyramidal syndrome is Kufor-Rakeb syndrome, which is an autosomal recessive nigrostriatal-pallidal-pyramidal neurodegeneration. The onset is in the teenage years with clinical features of parkinsonism plus spasticity, supranuclear upgaze paresis and dementia. Brain scans show atroLETTER TO THE EDITORS

Hypoglossal nerve paralysis caused by high cervical epidural abscess.

A 32-year-man noticed deviation of his tongue to the right side for 2 weeks. He had no history of fever, weight loss, or neck pain. Examination revealed deviation of the tongue to the right with atrophy (figure, A). MRI showed an epidural abscess extending from C1 to C4, …