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SPG11 mutations cause widespread white matter and basal ganglia abnormalities, but restricted cortical damage.

Abstract：

:SPG11 mutations are the major cause of autosomal recessive Hereditary Spastic Paraplegia. The disease has a wide phenotypic variability indicating many regions of the nervous system besides the corticospinal tract are affected. Despite this, anatomical and phenotypic characterization is restricted. In the present study, we investigate the anatomical abnormalities related to SPG11 mutations and how they relate to clinical and cognitive measures. Moreover, we aim to depict how the disease course influences the regions affected, unraveling different susceptibility of specific neuronal populations. We performed clinical and paraclinical studies encompassing neuropsychological, neuroimaging, and neurophysiological tools in a cohort of twenty-five patients and age matched controls. We assessed cortical thickness (FreeSurfer software), deep grey matter volumes (T1-MultiAtlas tool), white matter microstructural damage (DTI-MultiAtlas) and spinal cord morphometry (Spineseg software) on a 3 T MRI scan. Mean age and disease duration were 29 and 13.2 years respectively. Sixty-four percent of the patients were wheelchair bound while 84% were demented. We were able to unfold a diffuse pattern of white matter integrity loss as well as basal ganglia and spinal cord atrophy. Such findings contrasted with a restricted pattern of cortical thinning (motor, limbic and parietal cortices). Electromyography revealed motor neuronopathy affecting 96% of the probands. Correlations with disease duration pointed towards a progressive degeneration of multiple grey matter structures and spinal cord, but not of the white matter. SPG11-related hereditary spastic paraplegia is characterized by selective neuronal vulnerability, in which a precocious and widespread white matter involvement is later followed by a restricted but clearly progressive grey matter degeneration.

journal_name

Neuroimage Clin

journal_title

NeuroImage. Clinical

authors

Faber I,Martinez ARM,de Rezende TJR,Martins CR Jr,Martins MP,Lourenço CM,Marques W Jr,Montecchiani C,Orlacchio A,Pedroso JL,Barsottini OGP,Lopes-Cendes Í,França MC Jr

doi

10.1016/j.nicl.2018.05.031

subject

Has Abstract

pub_date

2018-06-09 00:00:00

pages

848-857

issn

2213-1582

pii

S2213-1582(18)30177-3

journal_volume

19

pub_type

杂志文章

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