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@ARTICLE{Lindig:138065,
author = {Lindig, Tobias and Bender, Benjamin and Hauser,
Till-Karsten and Mang, Sarah and Schweikardt, Daniel and
Klose, Uwe and Karle, Kathrin N and Schüle, Rebecca and
Schöls, Ludger and Rattay, Tim W},
title = {{G}ray and white matter alterations in hereditary spastic
paraplegia type {SPG}4 and clinical correlations.},
journal = {Journal of neurology},
volume = {262},
number = {8},
issn = {0340-5354},
address = {Berlin},
publisher = {Springer73057},
reportid = {DZNE-2020-04387},
pages = {1961-1971},
year = {2015},
abstract = {Hereditary spastic paraplegias (HSP) are a group of
clinically and genetically heterogeneous disorders with the
hallmark of progressive spastic gait disturbance. We used
advanced neuroimaging to identify brain regions involved in
SPG4, the most common HSP genotype. Additionally, we
analyzed correlations between imaging and clinical findings.
We performed 3T MRI scans including isotropic
high-resolution 3D T1, T2-FLAIR, and DTI sequences in 15
adult patients with genetically confirmed SPG4 and 15 age-
and sex-matched healthy controls. Brain volume loss of gray
and white matter was evaluated through voxel-based
morphometry (VBM) for supra- and infratentorial regions
separately. DTI maps of axial diffusivity (AD), radial
diffusivity (RD), mean diffusivity (MD), fractional
anisotropy (FA), and measured anisotropy (MA1) were analyzed
through tract-based special statistics (TBSS). VBM and TBSS
revealed a widespread affection of gray and white matter in
SPG4 including the corpus callosum, medio-dorsal thalamus,
parieto-occipital regions, upper brainstem, cerebellum, and
corticospinal tract. Significant correlations with
correlation coefficients r > 0.6 between clinical data and
DTI findings could be demonstrated for disease duration and
disease severity as assessed by the spastic paraplegia
rating scale for the pontine crossing tract (AD) and the
corpus callosum (RD and FA). Imaging also provided evidence
that SPG4 underlies a primarily axonal rather than
demyelinating damage in accordance with post-mortem data.
DTI is an attractive tool to assess subclinical affection in
SPG4. The correlation of imaging findings with disease
duration and severity suggests AD, RD, and FA as potential
progression markers in interventional studies.},
keywords = {Adult / Diffusion Tensor Imaging: methods / Female / Gray
Matter: pathology / Gray Matter: physiopathology / Humans /
Magnetic Resonance Imaging: methods / Male / Middle Aged /
Severity of Illness Index / Spastic Paraplegia, Hereditary:
pathology / White Matter: pathology / White Matter:
physiopathology},
cin = {Ext HIH / AG Maetzler / AG Schöls / AG Gasser},
ddc = {610},
cid = {I:(DE-2719)5000057 / I:(DE-2719)5000024 /
I:(DE-2719)5000005 / I:(DE-2719)1210000},
pnm = {344 - Clinical and Health Care Research (POF3-344) / 345 -
Population Studies and Genetics (POF3-345)},
pid = {G:(DE-HGF)POF3-344 / G:(DE-HGF)POF3-345},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:26050637},
doi = {10.1007/s00415-015-7791-7},
url = {https://pub.dzne.de/record/138065},
}