TY - JOUR
T1 - Diffusion tensor imaging in SPG11- and SPG4-linked hereditary spastic paraplegia
AU - Garaci, Francesco
AU - Toschi, Nicola
AU - Lanzafame, Simona
AU - Meschini, Alessandro
AU - Bertini, Enrico
AU - Simonetti, Giovanni
AU - Santorelli, Filippo Maria
AU - Guerrisi, Maria
AU - Floris, Roberto
PY - 2014/4
Y1 - 2014/4
N2 - The aim of this study was to identify potential diagnostic markers of Hereditary Spastic Paraplegia (HSP). We investigated the white matter features of spastic gait (SPG)11- and SPG4-linked HSP, using diffusion tensor imaging performed with a 3-Tesla (3T) scanner. We examined four patients with SPG11 mutations, three with SPG4 mutations, and 26 healthy controls. We obtained maps of fractional anisotropy (FA) and mean diffusivity (MD), which we analyzed through both region of interest -based approach and tract-based spatial statistics (TBSS). Compared with healthy controls, SPG11 patients presented increased MD and decreased FA in the semioval centers, frontal and peritrigonal white matter, posterior limb of the internal capsule, and throughout the corpus callosum. Similar alterations were seen in the SPG4 patients at the levels of the semioval centers, the posterior limb of the internal capsule, the left cerebral pedicle, the genu and trunk of the corpus callosum, and the peritrigonal white matter on the left. No MD or FA alterations were observed in the cerebellar white matter. In a direct comparison, white matter alterations were more pronounced and widespread in HSP-SPG11 than in HSP-SPG4 patients. Joint TBSS analysis of all three groups confirmed significant widespread alterations of FA and MD values in the supratentorial white matter. This noninvasive study documented the presence of altered diffusivity in white matter in both forms of HSP, which could represent an important diagnostic marker of HSP. The association of reduced FA and increased MD in this patient population supports the interpretation of HPG as a neurodegenerative disorder.
AB - The aim of this study was to identify potential diagnostic markers of Hereditary Spastic Paraplegia (HSP). We investigated the white matter features of spastic gait (SPG)11- and SPG4-linked HSP, using diffusion tensor imaging performed with a 3-Tesla (3T) scanner. We examined four patients with SPG11 mutations, three with SPG4 mutations, and 26 healthy controls. We obtained maps of fractional anisotropy (FA) and mean diffusivity (MD), which we analyzed through both region of interest -based approach and tract-based spatial statistics (TBSS). Compared with healthy controls, SPG11 patients presented increased MD and decreased FA in the semioval centers, frontal and peritrigonal white matter, posterior limb of the internal capsule, and throughout the corpus callosum. Similar alterations were seen in the SPG4 patients at the levels of the semioval centers, the posterior limb of the internal capsule, the left cerebral pedicle, the genu and trunk of the corpus callosum, and the peritrigonal white matter on the left. No MD or FA alterations were observed in the cerebellar white matter. In a direct comparison, white matter alterations were more pronounced and widespread in HSP-SPG11 than in HSP-SPG4 patients. Joint TBSS analysis of all three groups confirmed significant widespread alterations of FA and MD values in the supratentorial white matter. This noninvasive study documented the presence of altered diffusivity in white matter in both forms of HSP, which could represent an important diagnostic marker of HSP. The association of reduced FA and increased MD in this patient population supports the interpretation of HPG as a neurodegenerative disorder.
KW - Fractional anisotropy
KW - HSP
KW - Mean diffusivity
KW - ROI-based analysis
KW - TBSS
KW - White matter
UR - http://www.scopus.com/inward/record.url?scp=84903371070&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84903371070&partnerID=8YFLogxK
U2 - 10.3109/00207454.2013.836705
DO - 10.3109/00207454.2013.836705
M3 - Article
C2 - 23968121
AN - SCOPUS:84903371070
VL - 124
SP - 261
EP - 270
JO - International Journal of Neuroscience
JF - International Journal of Neuroscience
SN - 0020-7454
IS - 4
ER -