1)McDermott CJ, Shaw PJ. Hereditary spastic paraplegia. In: Eisen AA, et al, editors. Handbook of Clinical Neurology. Vol 82. Motor neuron disorders and related diseases. Amsterdam: Elsevier Science; 2007. p.327-52
|
|
|
2)瀧山嘉久.遺伝性痙性対麻痺.In 柳澤信夫,他編.Annual Review 神経2008. 東京: 中外医学社; 2008. p.198-211
|
|
|
3)Depienne C, Tallaksen C, Lephay JY, et al. Spastin mutations are frequent in sporadic spastic paraparesis and their spectrum is different from that observed in familial cases. J Med Genet. 2006; 43: 259-65
|
|
|
4)Koh K, Ishiura H, Miwa M, et al. Exome sequencing reveals a novel de novo mutation in ATL1. Neurol Clin Neurosci. 2014; 2: 1-4
|
|
|
5)Lee J-R, Srour M, Kim D, et al. De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and cerebellar atrophy. Hum Mutat. 2015; 36: 69-78
|
|
|
6)Harding AE. Hereditary “pure”spastic paraplegia: a clinical and genetic study of 22 families. J Neurol Neurosurg Psychiatry. 1981; 44: 871-83
|
|
|
7)Novarino G, Fenstermaker AG, Zaki MS, et al. Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. Science. 2014; 343: 506-11
|
|
|
8)Ylikallio E, Kim D, Isohanni P, et al. Dominant transmission of de novo KIF1A motor dominant variant underlying pure spastic paraplegia. Eur J Hum Genet. 2015; 23: 1427-30
|
|
|
9)Coutelier M, Goizet C, Durr A, et al. Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia. Brain. 2015; 138: 2191-205
|
|
|
10)瀧山嘉久.病態解明・新規治療を目指した神経疾患の患者レジストリシステム.痙性対麻痺: JASPAC. Brain Nerve. 2014; 66: 1210-7
|
|
|
11)Erichsen AK, Koht J, Stray-Pederson A, et al. Prevalence of hereditary ataxia and spastic paraplegia in southeast Norway: a populational-based study. Brain. 2009; 132: 1577-88
|
|
|
12)Boukhris A, Stevanin G, Feki I, et al. Tunisian hereditary spastic paraplegias: clinical variability supported by genetic heterogeneity. Clin Genet. 2009; 75: 527-36
|
|
|
13)Braschinsky M, Luus SM, Gross-Paju K, et al. The prevalence of hereditary spastic paraplegia and the occurrence of SPG4 mutations in France. Neuroepidemiology. 2009; 32: 89-93
|
|
|
14)Coutinho P, Ruano L, Loureiro JL, et al. Hereditary ataxia and spastic paraplegia in Portugal: a population-based prevalence study. JAMA Neurol. 2013; 70: 746-55
|
|
|
15)Finstere J, Löscher W, Quasthoff S, et al. Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance. J Neurol Sci. 2012; 318: 1-18
|
|
|
16)Ishiura H, Takahashi Y, Hayashi T, et al. Molecular epidemiology and clinical spectrum of hereditary spastic paraplegia in the Japanese population based on comprehensive mutational anal-yses. J Hum Genet. 2014; 59: 163-72
|
|
|
17)石浦浩之,高 紀信,嶋崎晴雄,他.常染色体劣性遺伝が疑われた遺伝性痙攣対麻痺104例の遺伝子解析(会).第55回日本神経学会学術大会.2014
|
|
|
18)Antonicka H, Ostergaard E, Sasarman F, et al. Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect. Am J Hum Genet. 2010; 87: 115-22
|
|
|
19)Shimazaki H, Takiyama Y, Ishiura H, et al. A homozygous mutation of C12orf65 causes spastic paraplegia with optic atrophy and neuropathy (SPG55). J Med Genet. 2012; 49: 777-84
|
|
|
20)Tucci A, Liu YT, Preza E, et al. Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy. J Neurol Neurosurg Psychiatry. 2014; 85: 486-92
|
|
|
21)Shimazaki H, Honda J, Naoi T, et al. Autosomal recessive complicated spastic paraplegia with lysosomal trafficking regulator gene mutation. J Neurol Neurosurg Psychiatry. 2014; 85: 1024-8
|
|
|
22)Ishiura H, Mitsui J, Shimazaki H, et al. A search for novel causative gene for hereditary spastic paraplegia (Abstract). The 56th Annual Meeting of the Japanese Society of Neurology. 2015
|
|
|
23)Lo Giudice T, Lombardi F, Santorelli FM, et al. Hereditary spastic paraplegia: clinical-genetic characteristics and evolving molecular mechanisms. Exp Neurol. 2014; 261: 518-39
|
|
|