ICNC Abstracts, ICNC 2018

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Clinical and Genetic Spectrum of Disorders with Cerebellar Atrophy
Ramya Bandi, lokesh lingappa, Prasanthi Aripirala, Rini Kothari, Ramesh Konanki, Nikit Milind Shah, Smilu Mohanlal, Thenral SG, Ramprasad VL

Last modified: 2018-09-09



Cerebellar involvement can be isolated or part of diffuse brain involvement

The Manifestations are protean and depends on age of child and stage of disease process. Clue to diagnoses is cerebellar atrophy.


Children with undiagnosed  neurological disorder after initial clinical, ophthalmic evaluation and metabolic screening (including  lactate) in whom MRI brain was demonstrating Cerebellar atrophy were included in the study for Clinical Exome Sequencing. We present report of 26 children analysed between  2016 to 2018.


15 boys and 11 girls, aged from 2 months to 10 years (median age 3 years).14 children were born to consanguineous parents. Common manifestations  included developmental delay (Global15, motor 3), central hypotonia(9),walking difficulties(8), movement disorders(6), nystagmus(5).

The clinical diagnoses with clinical examination and neuroimaging included Global  developmental delay with cerebellar involvement(10),Cerebellar ataxia(8), Pontocerebellar hypoplasia spectrum(4), spinocerebellar ataxia (2),INAD/NBIA(1) and Marinesco sjogren(1).

16 pathogenic variants of genes were  noted on genetic analysis which were SIL1 (3, Marinesco sjogren),PLA2G6 (4,INAD/NBIA),ITPR1(2,spinocerebellar ataxia), KIAA1279(1, Glodberg spritzer megacolon), SERAC1(1, MEGDEL Syndrome), ACO2(1,Aconitase deficiency),NUBPL(1, Mitochondrial complex 1 deficiency), RNASET2(1,Leucoencephalopathy,cystic,without megalencephaly), KCTD7(1,Progressive Myoclonic Epilepsy-3). Uncertain significance(4) and none detected(6) included the rest.


In 16/26 cases Clinical exome sequencing provided a definitive answer. Cerebellar atrophy provides a unifying  handle for varied genetic aetiologies.


Cerebellar Atrophy; Clinical Manifestations;Clinical Exome Squencing ; genetic Correlation

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