A p.Glu420Gln mutation in SPAST is associated with infantile onset spastic paraplegia complicated by cerebella ataxia, epilepsy, peripheral neuropathy, and hypoplasia of the corpus callosum

2022 ◽  
Author(s):  
Haitian Nan ◽  
Tomoko Mizuno ◽  
Atsuko Arisaka ◽  
Kenshi Sei ◽  
Yoshihisa Takiyama
Keyword(s):  
Peripheral Neuropathy ◽  
Corpus Callosum ◽  
Spastic Paraplegia

Neurological and neuroradiological progression in hereditary spastic paraplegia with a thin corpus callosum

2000 ◽  
Vol 102 (3) ◽  
pp. 196-199 ◽  
Author(s):  
S. Okubo ◽  
M. Ueda ◽  
T. Kamiya ◽  
S. Mizumura ◽  
A. Terashi ◽  
...  
Keyword(s):  
Corpus Callosum ◽  
Hereditary Spastic Paraplegia ◽  
Spastic Paraplegia ◽  
Thin Corpus Callosum

scholarly journals SPG11 Mutation in Hereditary Spastic Paraplegia with Thin Corpus Callosum Diagnosed by Targeted Gene Panel Sequencing

2020 ◽  
Vol 38 (4) ◽  
pp. 359-361
Author(s):  
Haelim Kim ◽  
Young Gi Min ◽  
Sang Bin Hong ◽  
Man-Jin Kim ◽  
Moon-Woo Seong ◽  
...  
Keyword(s):  
Corpus Callosum ◽  
Hereditary Spastic Paraplegia ◽  
Gene Panel ◽  
Spastic Paraplegia ◽  
Thin Corpus Callosum ◽  
Gene Panel Sequencing ◽  
Panel Sequencing

Autopsy case of hereditary spastic paraplegia with thin corpus callosum showing severe gliosis in the cerebral white matter

2005 ◽  
Vol 25 (4) ◽  
pp. 346-352 ◽  
Author(s):  
Satoshi Kuru ◽  
Motoko Sakai ◽  
Masaaki Konagaya ◽  
Mari Yoshida ◽  
Yoshio Hashizume
Keyword(s):  
White Matter ◽  
Corpus Callosum ◽  
Hereditary Spastic Paraplegia ◽  
Cerebral White Matter ◽  
Autopsy Case ◽  
Spastic Paraplegia ◽  
Thin Corpus Callosum

Benzodiazepine Receptor Binding in Japanese Subtype of Hereditary Spastic Paraplegia with a Thin Corpus Callosum

2001 ◽  
pp. 389-393
Author(s):  
Masayuki Ueda ◽  
Kiyoshi Iwabuchi ◽  
Masahiro Mishina ◽  
Tatsushi Kamiya ◽  
Hideki Nagatomo ◽  
...  
Keyword(s):  
Corpus Callosum ◽  
Receptor Binding ◽  
Hereditary Spastic Paraplegia ◽  
Benzodiazepine Receptor ◽  
Spastic Paraplegia ◽  
Thin Corpus Callosum

scholarly journals Hereditary Spastic Paraplegia With Mental Impairment and Thin Corpus Callosum in Tunisia

2008 ◽  
Vol 65 (3) ◽  
Author(s):  
Amir Boukhris ◽  
Giovanni Stevanin ◽  
Imed Feki ◽  
Elodie Denis ◽  
Nizar Elleuch ◽  
...  
Keyword(s):  
Corpus Callosum ◽  
Hereditary Spastic Paraplegia ◽  
Spastic Paraplegia ◽  
Thin Corpus Callosum ◽  
Mental Impairment
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