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Movement disorders in Megalencephalic Leukoencephalopathy with subcortical cysts - A case series
Jacky Ganguly1, Divyani Garg2, Mitesh Chandarana3
1Movement Disorder Centre, Institute of Neurosciences Kolkata, 185, Acharya Jagadish Chandra Bose Rd, Elgin, Kolkata, West Bengal, 700017, India.
Background:
Megalencephalic leukoencephalopathy with subcortical cysts (MLC) has been described in the literature mostly as early-onset leukodystrophy with cerebellar ataxia being the main clinical phenotype. However, other associated movement disorders have also been reported discretely.
Cases:
Here, we present seven cases of MLC. Cerebellar ataxia was common in them, while dystonia was present in six, parkinsonism in one and stereotypy in two. Six of them, belonging to the Agarwal community, had the common c.135dup variant.
Conclusion:
Our observation highlights the presence of movement disorders in MLC beyond cerebellar ataxia and phenotypic variability of the c.135dup variant, prevalent in the Agarwal community.
Insights
Megalencephalic leukoencephalopathy with subcortical cysts (MLC) presents with diverse movement disorders beyond cerebellar ataxia. A specific c.135dup variant is common in the Agarwal community, showing varied symptoms.
Area of Science:
- Neurology
- Genetics
- Neuroscience
Background:
- Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is primarily known as an early-onset leukodystrophy.
- Cerebellar ataxia is the predominant clinical feature reported in existing literature.
- Other associated movement disorders in MLC have been infrequently documented.
Observation:
- This study details seven cases of Megalencephalic leukoencephalopathy with subcortical cysts.
- Cerebellar ataxia was a common finding across all observed cases.
- Additional movement disorders included dystonia (6 cases), parkinsonism (1 case), and stereotypy (2 cases).
Findings:
- Six of the seven cases belonged to the Agarwal community and shared a common c.135dup variant.
- The c.135dup variant demonstrated phenotypic variability, manifesting in diverse movement disorders.
- Movement disorder spectrum in MLC extends beyond cerebellar ataxia, encompassing dystonia, parkinsonism, and stereotypy.
Implications:
- Highlights the broader spectrum of movement disorders associated with Megalencephalic leukoencephalopathy with subcortical cysts.
- Underscores the phenotypic variability of the c.135dup variant within the Agarwal community.
- Suggests genetic factors may influence the presentation and severity of neurological symptoms in MLC.
