SPG11 mutations cause widespread white matter and basal ganglia abnormalities, but restricted cortical damage
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Abbreviations
ACE-R
Addenbrooke's Cognitive Examination Revised
ALS
amyotrophic lateral sclerosis
CA
cord area
CE
cord eccentricity
CMAP
compound muscle action potential
CST
corticospinal tract
DTI
diffusion tensor imaging
FA
fractional anisotropy
GM
grey matter
HSP
hereditary spastic paraplegia
LH
left hemisphere
MD
mean diffusivity
MOCA
Montreal cognitive assessment
NPI
neuropsychiatric inventory
PNP
sensory-motor polyneuropathy
PNS
peripheral nervous system
RH
right hemisphere
ROI
region of interest
SC
spinal cord
SNAP
sensory nerve action potential
SPRS
Spastic Paraplegia Rating Scale
STS
cortex adjacent to the superior temporal sulcus
WM
white matter
WES
whole exome sequencing
Keywords
Complicated hereditary spastic paraplegia
SPG11
Motor neuron disorder
Thinning of the corpus callosum
White matter
Grey matter
Spinal cord
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© 2018 The Authors. Published by Elsevier Inc.