An autopsied case report of spastic paraplegia with thin corpus callosum carrying a novel mutation in the SPG11 gene: widespread degeneration with eosinophilic inclusions

[1] Iwabuchi K(1991)A new type of complicated form of hereditary spastic paraplegia showing mental deterioration, quadriplegia with muscular atrophy, sensory disturbance, extrapyramidal disorders, and epilepsy Rinsho Shinkeigaku 31 945-952

[2] Yagishita S(1998)Hereditary spastic paraplegia with a thin corpus callosum and thalamic involvement in Japan Neurology. 51 1751-1754

[3] Amano N(1999)Genetic localization of a new locus for recessive familial spastic paraparesis to 15q13-15 Neurology. 53 50-56

[4] Kosaka K(1994)Three patients of complicated form of autosomal recessive hereditary spastic paraplegia associated with hypoplasia of the corpus callosum No To Shinkei 46 941-947

[5] Ueda M(2007)Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum Nat Genet 39 366-372

[6] Katayama Y(2008)Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration Brain. 131 772-784

[7] Kamiya T(2009)Tunisian hereditary spastic paraplegias: clinical variability supported by genetic heterogeneity Clin Genet 75 527-536

[8] Mishina M(2009)Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion Hum Mutat 30 E500-E519

[9] Igarashi H(2013)Hereditary ataxia and spastic paraplegia in Portugal: a population-based prevalence study JAMA Neurol 70 746-755

[10] Okubo S(2014)Molecular epidemiology and clinical spectrum of hereditary spastic paraplegia in the Japanese population based on comprehensive mutational analyses J Hum Genet 59 163-172

[1] Iwabuchi K(1991)A new type of complicated form of hereditary spastic paraplegia showing mental deterioration, quadriplegia with muscular atrophy, sensory disturbance, extrapyramidal disorders, and epilepsy Rinsho Shinkeigaku 31 945-952

[2] Yagishita S(1998)Hereditary spastic paraplegia with a thin corpus callosum and thalamic involvement in Japan Neurology. 51 1751-1754

[3] Amano N(1999)Genetic localization of a new locus for recessive familial spastic paraparesis to 15q13-15 Neurology. 53 50-56

[4] Kosaka K(1994)Three patients of complicated form of autosomal recessive hereditary spastic paraplegia associated with hypoplasia of the corpus callosum No To Shinkei 46 941-947

[5] Ueda M(2007)Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum Nat Genet 39 366-372

[6] Katayama Y(2008)Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration Brain. 131 772-784

[7] Kamiya T(2009)Tunisian hereditary spastic paraplegias: clinical variability supported by genetic heterogeneity Clin Genet 75 527-536

[8] Mishina M(2009)Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion Hum Mutat 30 E500-E519

[9] Igarashi H(2013)Hereditary ataxia and spastic paraplegia in Portugal: a population-based prevalence study JAMA Neurol 70 746-755

[10] Okubo S(2014)Molecular epidemiology and clinical spectrum of hereditary spastic paraplegia in the Japanese population based on comprehensive mutational analyses J Hum Genet 59 163-172