Journal of Movement Disorders

Brief communications

Clinico-Genetic Profiles of Seven Patients With PINK1-Related Parkinson’s Disease: A Case Series From a Tertiary Care Centre in India and a Review of the Literature: Aravind Gunasekaran, Vikram V Holla, Prashant Phulpagar, Sneha D Kamath, Nitish Kamble, Ravi Yadav, Babylakshmi Muthusamy, Pramod Kumar Pal; J Mov Disord. 2024;17(4):436-441. Published online September 19, 2024; DOI: https://doi.org/10.14802/jmd.24157

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Abstract PDF Supplementary Material: Objective
Recessive variants in the PINK1 gene are known causes of early-onset Parkinson’s disease (EOPD). To describe the clinical features and genetic profiles of patients with PINK1-related Parkinson’s disease (PARK-PINK1) mutations.
Methods
We conducted a retrospective chart review of the demographic, clinical and genetic details of patients from our database carrying biallelic PINK1 variants.
Results
A total of 7 patients whose median age at onset was 33 years (range: 20–49) were recruited. All had asymmetrical onset, tremors were present in 4 patients, abnormal posturing was present in 2 patients, and slowness was present in 1 patient. The parkinsonism phenotype was noted in 6 patients (with dystonia in four) and isolated dystonia in one. Among the 6 patients with parkinsonism, five had rest tremors, all had good levodopa responses, and four had motor fluctuations with choreiform dyskinesia. Exome sequencing revealed biallelic pathogenic/likely pathogenic variants, five of which were novel.
Conclusion
PARK-PINK1 presents as an EOPD with tremor-predominant phenotype, good levodopa-responsiveness, early motor fluctuation and dyskinesia. We describe five novel variants in PINK1 gene.

Journey Through Autosomal-Recessive Spastic Ataxia of Charlevoix–Saguenay: Insights From a Case Series of Seven Patients–A Single-Center Study and Review of an Indian Cohort: Mit Ankur Raval, Vikram V Holla, Nitish Kamble, Gautham Arunachal, Babylakshmi Muthusamy, Jitender Saini, Ravi Yadav, Pramod Kumar Pal; J Mov Disord. 2024;17(4):430-435. Published online August 29, 2024; DOI: https://doi.org/10.14802/jmd.24154

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Abstract PDF Supplementary Material: Objective
In this study, we describe the clinical and investigative profiles of 7 cases of autosomal-recessive spastic ataxia of Charlevoix–Saguenay (ARSACS).
Methods
We performed a retrospective chart review of genetically proven cases of ARSACS from our database. Additionally, we reviewed the literature for reported cases of ARSACS from India.
Results
All 7 patients experienced disease onset within the first decade of life. According to the available data, all patients had walking difficulty (7/7), spastic ataxia (7/7), classical neuroimaging findings (7/7), sensory‒motor demyelinating polyneuropathy (6/6), abnormal evoked potentials (5/5), and a thickened retinal nerve fiber layer (3/3). Exome sequencing revealed 8 unique pathogenic/likely pathogenic variants (6 novel) in the SACS gene. An additional 21 cases (18 families) of ARSACS that could be identified from India had similar clinical and investigational findings. The most common c.8793delA variant may have a founder effect.
Conclusion
Our series adds to the previously reported cases of ARSACS from India and expands the genetic spectrum by adding 6 novel variants.

Letter to the editor

Dystonic Opisthotonus in Kufor-Rakeb Syndrome: Expanding the Phenotypic and Genotypic Spectrum: Sandeep Gurram, Vikram V Holla, Riyanka Kumari, Debjyoti Dhar, Nitish Kamble, Ravi Yadav, Babylakshmi Muthusamy, Pramod Kumar Pal; J Mov Disord. 2023;16(3):343-346. Published online July 25, 2023; DOI: https://doi.org/10.14802/jmd.23098

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Estimation of Ambulation and Survival in Neurodegeneration with Brain Iron Accumulation Disorders
Elahe Amini, Mohammad Rohani, Anthony E. Lang, Zahra Azad, Seyed Amir Hassan Habibi, Afagh Alavi, Gholamali Shahidi, Maziar Emamikhah, Ahmad Chitsaz
Movement Disorders Clinical Practice.2024; 11(1): 53. CrossRef

Original Article

KMT2B-Related Dystonia in Indian Patients With Literature Review and Emphasis on Asian Cohort: Debjyoti Dhar, Vikram V Holla, Riyanka Kumari, Neeharika Sriram, Jitender Saini, Ravi Yadav, Akhilesh Pandey, Nitish Kamble, Babylakshmi Muthusamy, Pramod Kumar Pal; J Mov Disord. 2023;16(3):285-294. Published online June 13, 2023; DOI: https://doi.org/10.14802/jmd.23035

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Abstract PDF Supplementary Material

Objective
aaMutations in the KMT2B gene have been identified in patients previously diagnosed with idiopathic dystonia. Literature on KMT2B-related dystonia is sparse in the Indian and Asian populations.
Methods
aaWe report seven patients with KMT2B-related dystonia studied prospectively from May 2021 to September 2022. Patients underwent deep clinical phenotyping and genetic testing by whole-exome sequencing (WES). A systematic literature search was performed to identify the spectrum of previously published KMT2B-related disorders in the Asian subcontinent.
Results
aaThe seven identified patients with KMT2B-related dystonia had a median age at onset of four years. The majority experienced onset in the lower limbs (n = 5, 71.4%), with generalization at a median duration of 2 years. All patients except one had complex phenotypes manifesting as facial dysmorphism (n = 4), microcephaly (n = 3), developmental delay (n = 3), and short stature (n = 1). Magnetic resonance imaging (MRI) abnormalities were present in four cases. WES revealed novel mutations in the KMT2B gene in all patients except one. Compared to the largest cohort of patients with KMT2B-related disorders, the Asian cohort, comprising 42 patients, had a lower prevalence of female patients, facial dysmorphism, microcephaly, intellectual disability, and MRI abnormalities. Protein-truncating variants were more prevalent than missense variants. While microcephaly and short stature were more common in patients with missense mutations, facial dysmorphism was more common in patients with truncating variants. Deep brain stimulation, performed in 17 patients, had satisfactory outcomes.
Conclusion
aaThis is the largest series of patients with KMT2B-related disorders from India, further expanding the clinico-genotypic spectrum. The extended Asian cohort emphasizes the unique attributes of this part of the world.

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Clinical and genetic profile of patients with dystonia: An experience from a tertiary neurology center from India
Debjyoti Dhar, Vikram V. Holla, Riyanka Kumari, Ravi Yadav, Nitish Kamble, Babylakshmi Muthusamy, Pramod Kumar Pal
Parkinsonism & Related Disorders.2024; 120: 105986. CrossRef
The clinical spectrum and pathogenesis associated with KMT2B variants in Chinese pediatric patients
Shuangjin Ding, Gang Xie, Zonglin Han, Yangming Wang, Ming Shi, Feng Zhai, Tinghong Liu, Zihang Xie, Weihua Zhang, Yun Wu, Xinying Yang, Anna Zhou, Fang Fang, Shuhong Ren, Shuli Liang, Huiqing Cao, Hui Xiong, Changhong Ding, Lifang Dai
Parkinsonism & Related Disorders.2024; 129: 107172. CrossRef

Letter to the editor

Myoclonus-Dystonic Presentation of Childhood Onset DYT-GCH1: A Report From India: Praveen Sharma, Vikram V Holla, Sandeep Gurram, Nitish Kamble, Ravi Yadav, Pramod Kumar Pal; J Mov Disord. 2023;16(1):101-103. Published online January 12, 2023; DOI: https://doi.org/10.14802/jmd.22106

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Citations

Citations to this article as recorded by

Myoclonus: an update
Betsy Thomas, Steven J. Frucht
Current Opinion in Neurology.2024; 37(4): 421. CrossRef
A Genetics Pearl for Counseling Patients with Epsilon-Sarcoglycan Myoclonus-Dystonia
Alissa S. Higinbotham, Suzanne D. DeBrosse, Camilla W. Kilbane
Tremor and Other Hyperkinetic Movements.2023;[Epub] CrossRef

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