1.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.
3.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.
5.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.
7.Histopathological Features of Chronic Gastritis and its Association with Helicobacter pylori Infection
Gargi Tignath SHUKLA ; Sunita YADAV ; Ajay SHUKLA ; Krishna Kumar YADAV ; Amit V. VARMA ; Sirish NANDEDEKAR ; Mili SENGER ; Sudha GUPTA
The Korean Journal of Gastroenterology 2024;84(4):153-159
Background/Aims:
A Helicobacter pylori (H. pylori) infection is the most common cause of chronic gastritis (CG), with approximately 50% of the world’s population infected. Long-term infection increases the risk of progression to gastric cancer. This study evaluated the histopathological changes in CG using the Updated Sydney System (USS) to estimate the prevalence and correlation of H. pylori gastritis with other histological variables.
Methods:
This research was a prospective observational study conducted in the Department of Pathology of a tertiary care teaching hospital in Central India. The study was conducted between Feb 2017 to April 2018. Two antral biopsies were taken per patient, one for a Rapid Urease Test and the second for routine histopathology. All samples were analyzed according to the USS.
Results:
CG was found in 83.84% of total dyspeptic patients. The most common age group was 31–40 years, with a male preponderance. Of 109 gastric antral biopsies with histopathological evidence of chronic gastritis, neutrophilic activity, intestinal metaplasia, atrophy, and lymphoid aggregates were present in 50 (45.87%), 10 (9.2%), 23 (21.10%), and 11(10.09%) cases, respectively.The prevalence of H. pylori was 46.78%, and its association with the degree of chronic inflammation and intestinal metaplasia was statistically significant.
Conclusions
H. pylori was significantly associated with the degree of chronic inflammation and intestinal metaplasia. Hence, this study suggests a vigorous search for H. pylori should be initiated if chronic inflammation and intestinal metaplasia are seen in antral gastric biopsies.
8.Histopathological Features of Chronic Gastritis and its Association with Helicobacter pylori Infection
Gargi Tignath SHUKLA ; Sunita YADAV ; Ajay SHUKLA ; Krishna Kumar YADAV ; Amit V. VARMA ; Sirish NANDEDEKAR ; Mili SENGER ; Sudha GUPTA
The Korean Journal of Gastroenterology 2024;84(4):153-159
Background/Aims:
A Helicobacter pylori (H. pylori) infection is the most common cause of chronic gastritis (CG), with approximately 50% of the world’s population infected. Long-term infection increases the risk of progression to gastric cancer. This study evaluated the histopathological changes in CG using the Updated Sydney System (USS) to estimate the prevalence and correlation of H. pylori gastritis with other histological variables.
Methods:
This research was a prospective observational study conducted in the Department of Pathology of a tertiary care teaching hospital in Central India. The study was conducted between Feb 2017 to April 2018. Two antral biopsies were taken per patient, one for a Rapid Urease Test and the second for routine histopathology. All samples were analyzed according to the USS.
Results:
CG was found in 83.84% of total dyspeptic patients. The most common age group was 31–40 years, with a male preponderance. Of 109 gastric antral biopsies with histopathological evidence of chronic gastritis, neutrophilic activity, intestinal metaplasia, atrophy, and lymphoid aggregates were present in 50 (45.87%), 10 (9.2%), 23 (21.10%), and 11(10.09%) cases, respectively.The prevalence of H. pylori was 46.78%, and its association with the degree of chronic inflammation and intestinal metaplasia was statistically significant.
Conclusions
H. pylori was significantly associated with the degree of chronic inflammation and intestinal metaplasia. Hence, this study suggests a vigorous search for H. pylori should be initiated if chronic inflammation and intestinal metaplasia are seen in antral gastric biopsies.
9.Histopathological Features of Chronic Gastritis and its Association with Helicobacter pylori Infection
Gargi Tignath SHUKLA ; Sunita YADAV ; Ajay SHUKLA ; Krishna Kumar YADAV ; Amit V. VARMA ; Sirish NANDEDEKAR ; Mili SENGER ; Sudha GUPTA
The Korean Journal of Gastroenterology 2024;84(4):153-159
Background/Aims:
A Helicobacter pylori (H. pylori) infection is the most common cause of chronic gastritis (CG), with approximately 50% of the world’s population infected. Long-term infection increases the risk of progression to gastric cancer. This study evaluated the histopathological changes in CG using the Updated Sydney System (USS) to estimate the prevalence and correlation of H. pylori gastritis with other histological variables.
Methods:
This research was a prospective observational study conducted in the Department of Pathology of a tertiary care teaching hospital in Central India. The study was conducted between Feb 2017 to April 2018. Two antral biopsies were taken per patient, one for a Rapid Urease Test and the second for routine histopathology. All samples were analyzed according to the USS.
Results:
CG was found in 83.84% of total dyspeptic patients. The most common age group was 31–40 years, with a male preponderance. Of 109 gastric antral biopsies with histopathological evidence of chronic gastritis, neutrophilic activity, intestinal metaplasia, atrophy, and lymphoid aggregates were present in 50 (45.87%), 10 (9.2%), 23 (21.10%), and 11(10.09%) cases, respectively.The prevalence of H. pylori was 46.78%, and its association with the degree of chronic inflammation and intestinal metaplasia was statistically significant.
Conclusions
H. pylori was significantly associated with the degree of chronic inflammation and intestinal metaplasia. Hence, this study suggests a vigorous search for H. pylori should be initiated if chronic inflammation and intestinal metaplasia are seen in antral gastric biopsies.
10.Histopathological Features of Chronic Gastritis and its Association with Helicobacter pylori Infection
Gargi Tignath SHUKLA ; Sunita YADAV ; Ajay SHUKLA ; Krishna Kumar YADAV ; Amit V. VARMA ; Sirish NANDEDEKAR ; Mili SENGER ; Sudha GUPTA
The Korean Journal of Gastroenterology 2024;84(4):153-159
Background/Aims:
A Helicobacter pylori (H. pylori) infection is the most common cause of chronic gastritis (CG), with approximately 50% of the world’s population infected. Long-term infection increases the risk of progression to gastric cancer. This study evaluated the histopathological changes in CG using the Updated Sydney System (USS) to estimate the prevalence and correlation of H. pylori gastritis with other histological variables.
Methods:
This research was a prospective observational study conducted in the Department of Pathology of a tertiary care teaching hospital in Central India. The study was conducted between Feb 2017 to April 2018. Two antral biopsies were taken per patient, one for a Rapid Urease Test and the second for routine histopathology. All samples were analyzed according to the USS.
Results:
CG was found in 83.84% of total dyspeptic patients. The most common age group was 31–40 years, with a male preponderance. Of 109 gastric antral biopsies with histopathological evidence of chronic gastritis, neutrophilic activity, intestinal metaplasia, atrophy, and lymphoid aggregates were present in 50 (45.87%), 10 (9.2%), 23 (21.10%), and 11(10.09%) cases, respectively.The prevalence of H. pylori was 46.78%, and its association with the degree of chronic inflammation and intestinal metaplasia was statistically significant.
Conclusions
H. pylori was significantly associated with the degree of chronic inflammation and intestinal metaplasia. Hence, this study suggests a vigorous search for H. pylori should be initiated if chronic inflammation and intestinal metaplasia are seen in antral gastric biopsies.

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