Cerebellar White Matter Abnormalities in Charcot–Marie–Tooth Disease: A Combined Volumetry and Diffusion Tensor Imaging Analysis
Charcot–Marie–Tooth disease (CMT) is a genetically heterogeneous hereditary peripheral neuropathy. Brain volumetry and diffusion tensor imaging (DTI) were performed in 47 controls and 47 CMT patients with <i>PMP22</i> duplication (<i>n</i> = 10), <i>MFN2</i> (<...
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| Autores principales: | , , , , , , , , , |
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| Formato: | article |
| Lenguaje: | EN |
| Publicado: |
MDPI AG
2021
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| Materias: | |
| Acceso en línea: | https://doaj.org/article/a42d27b0678f421191073637cdb6da23 |
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| Sumario: | Charcot–Marie–Tooth disease (CMT) is a genetically heterogeneous hereditary peripheral neuropathy. Brain volumetry and diffusion tensor imaging (DTI) were performed in 47 controls and 47 CMT patients with <i>PMP22</i> duplication (<i>n</i> = 10), <i>MFN2</i> (<i>n</i> = 15), <i>GJB1</i> (<i>n</i> = 11), or <i>NEFL</i> mutations (<i>n</i> = 11) to investigate for structural changes in the cerebellum. Volume of cerebellar white matter (WM) was significantly reduced in CMT patients with <i>NEFL</i> mutations. Abnormal DTI findings were observed in the superior, middle, and inferior cerebellar peduncles, predominantly in <i>NEFL</i> mutations and partly in <i>GJB1</i> mutations. Cerebellar ataxia was more prevalent in the <i>NEFL</i> mutation group (72.7%) than the <i>GJB1</i> mutation group (9.1%) but was not observed in other genotypic subtypes, which indicates that structural cerebellar abnormalities were associated with the presence of cerebellar ataxia. However, <i>NEFL</i> and <i>GJB1</i> mutations did not affect cerebellar gray matter (GM), and neither cerebellar GM nor WM abnormalities were observed in the <i>PMP22</i> duplication or <i>MFN2</i> mutation groups. We found structural evidence of cerebellar WM abnormalities in CMT patients with <i>NEFL</i> and <i>GJB1</i> mutations and an association between cerebellar WM involvement and cerebellar ataxia in these genetic subtypes, especially in the <i>NEFL</i> subgroup. Therefore, we suggest that neuroimaging, such as MRI volumetry or DTI, for CMT patients could play an important role in detecting abnormalities of cerebellar WM. |
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