1.Cardiovagal Baroreflex Sensitivity in Parkinson's Disease and Multiple-System Atrophy.
Sankanika ROY ; Ashok Kumar JARYAL ; Achal Kumar SRIVASTAVA ; Kishore Kumar DEEPAK
Journal of Clinical Neurology 2016;12(2):218-223
BACKGROUND AND PURPOSE: Parkinson's disease (PD) and multiple-system atrophy of the parkinsonian type (MSA-P) are progressive neurodegenerative disorders that in addition to dysfunction of the motor system also present with features of dysautonomia, frequently manifesting as orthostatic hypotension (OH). The pathophysiology of OH has been proposed to differ between these two disorders. This study investigated the spontaneous and cardiovagal baroreflex sensitivity (BRS) in Parkinson's disease patients with orthostatic hypotension (PD(OH)) and multiple system atrophy of Parkinsonian type with orthostatic hypotension in an attempt to differentiate the two disorders. METHODS: Two methods were used for determining the BRS: a spontaneous method (spontaneous BRS) and the reflexive baroreflex gain (cardiovagal BRS) from phases II and IV of the Valsalva maneuver (VM) in PD(OH) and MSA-P(OH). RESULTS: The spontaneous BRS (5.04±0.66 ms/mm Hg vs. 4.78±0.64 ms/mm Hg, p=0.54) and the cardiovagal BRS from phase II of the VM (0.96±0.75 ms/mm Hg vs. 1.34±1.51 ms/mm Hg, p=0.76) did not differ between PD(OH) and MSA-P(OH), but the cardiovagal BRS from phase IV of the VM (0.03±0.07 ms/mm Hg vs. 2.86±2.39 ms/mm Hg, p=0.004) was significantly lower in PD(OH). CONCLUSIONS: The cardiovagal BRS from phase IV of the VM has potential for differentiating PD(OH) and MSA-P(OH), indicating a difference in the pathophysiological mechanisms underlying the autonomic dysfunction in the two disorders.
Atrophy*
;
Baroreflex*
;
Humans
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Hypotension, Orthostatic
;
Multiple System Atrophy
;
Neurodegenerative Diseases
;
Parkinson Disease*
;
Primary Dysautonomias
;
Reflex
;
Valsalva Maneuver
2.Lack of association of transthyretin variations with spinocerebellar ataxia in north Indian population
Mohammed Faruq ; Meenakshi Verma ; Harpreet ; Achal Kumar Srivastava ; Ritushree Kukreti ; Arijit Mukhopadhyay ; Nirmal Kumar Ganguly ; Vibha Taneja
Neurology Asia 2014;19(4):367-374
Background & Objective: Transthyretin (TTR) has been associated with spinocerebellar ataxia (SCA)
by several independent case reports. Coexistence of TTR and SCA mutations, overlapping clinical
symptoms as well as altered levels of TTR in SCA patients suggest a correlation between TTR and
SCA. To our knowledge, no large cohort based study has been attempted to examine the association of
SCA with polymorphism in TTR gene. Here, we chose to investigate TTR variations in SCA patients
(n=266) and controls (n=192) of North Indian ethnicity. Methods: We sequenced the exons including
exon-intron boundaries of TTR gene in 55 patients and 55 controls. We observed four variations
which were further genotyped by single base extension method (SNaPshot) in a larger cohort (SCA
patients n=211 and controls n=137). Results: A novel synonymous variation c.372 C>G in exon 4
was detected in heterozygous condition in one control sample. We found nominal association for
rs1800458 (Gly6Ser), with SCA (p-value < 0.05) which did not remain after Bonferroni correction
for multiple tests. Pairwise linkage disequilibrium (LD) analysis revealed no LD between studied
SNPs. Further, we employed two-marker sliding window analysis and observed a weak association of
haplotype AT of rs1800458 and rs1667251 with SCA patients (p-value <0.05) which was not retained
after Bonferroni correction.
Conclusion: Our data suggests no association of genetic variations of TTR in SCA pathology.
10.CSF1R-Related Adult-Onset Leukoencephalopathy With Axonal Spheroids: A Case Series of Four Asian Indian Patients
Divyani GARG ; Abhishek VAINGANKAR ; Anu GUPTA ; Roopa RAJAN ; Ajay GARG ; Ayush AGARWAL ; Farsana MUSTAFA ; Divya M RADHAKRISHNAN ; Awadh Kishor PANDIT ; Venugopalan Y VISHNU ; Mamta Bhushan SINGH ; Rohit BHATIA ; Achal Kumar SRIVASTAVA
Journal of Movement Disorders 2025;18(2):170-174
Objective:
Colony-stimulating factor 1 receptor-related leukoencephalopathy (CSF1R-L) is a rare adult-onset leukoencephalopathy. Reports of CSF1R-L patients from the Indian subcontinent remain limited. We aimed to report four patients with genetically confirmed CSF1R-L from four Asian Indian families and described their clinical, molecular, and radiological features.
Methods:
All patients underwent clinical examination, brain magnetic resonance imaging, and whole-exome sequencing to identify causative variants in the CSF1R gene. We also reviewed published reports of Indian patients with CSF1R-L.
Results:
The age at enrollment ranged from 34 to 40 years. The duration of symptoms ranged from 11 months to 2 years. The chief clinical phenotype in three patients was a rapidly evolving cognitive-behavioral syndrome combined with atypical parkinsonism, and asymmetrical spastic tetraparesis was observed in one patient. We identified four different variants (three missense variants and one in-frame deletion). Radiological findings revealed white matter involvement and diffusion restriction involving the subcortical white matter and pyramidal tracts.
Conclusion
We expand the literature on CSF1R-L patients from India by reporting four new cases.