Preprint Review Version 1 Preserved in Portico This version is not peer-reviewed

MRI CNS Atrophy Pattern and the Etiologies of Progressive Ataxias

Version 1 : Received: 9 November 2021 / Approved: 12 November 2021 / Online: 12 November 2021 (11:37:40 CET)

How to cite: Mascalchi, M. MRI CNS Atrophy Pattern and the Etiologies of Progressive Ataxias. Preprints 2021, 2021110216 (doi: 10.20944/preprints202111.0216.v1). Mascalchi, M. MRI CNS Atrophy Pattern and the Etiologies of Progressive Ataxias. Preprints 2021, 2021110216 (doi: 10.20944/preprints202111.0216.v1).

Abstract

MRI shows in-vivo the three archetypal patterns of CNS volume loss underlying progressive ataxias, namely spinal atrophy (SA), cortical cerebellar atrophy (CCA) and olivopontocerebellar atrophy (OPCA). The MRI-based CNS atrophy pattern was reviewed in 128 progressive ataxias. A CNS atrophy pattern was identified in 91 conditions: SA in Freidreich’s ataxia, CCA in 5 acquired and 72 (24 dominant, 47 recessive,1 X-linked) inherited ataxias, OPCA in Multi-System Atrophy and 12 (9 dominant, 2 recessive,1 X-linked) inherited ataxias. The MRI-based CNS atrophy pattern may be useful for genetic assessment, identification of shared cellular targets, and repurposing therapies or enlargement of drugs indications in progressive ataxias.

Keywords

Ataxia; MRI; CNS

Subject

MEDICINE & PHARMACOLOGY, Clinical Neurology

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