Hereditary spastic paraplegia

Errico, A., Ballabio, A., and Rugarli, E. I. (2002). Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics. Hum. Mol. Genet. 11, 153-163. 

K5. Kjellin, K. G., Stibler, H., Protein patterns of cerebrospinal fluid in hereditary ataxias and hereditary spastic paraplegia. J. Neurol. Sci. 25(1), 65-74 (1975). 

Schapira, A. H. Mitochondrial involvement in Parkinson s disease, Huntington s disease, hereditary spastic paraplegia and Friedreich s ataxia. 1410(2),... 

Siam A, Brancale A, Simons C (2012) Comparative modeling of 25-hydroxycholesterol-7a-hydroxylase (CYP7B1) ligand binding and analysis of hereditary spastic paraplegia type 5 CYP7B1 mutations. J Mol Model 18 441 53... 

Roos P, Svenstrup K, Danielsen ER, Thomsen C, Nielsen JE (2014) CYP7B1 novel mutations and magnetic resonance spectroscopy abnormalities in hereditary spastic paraplegia type 5A. Acta Neurol Scand 129 330-334... 

CYP7B1 mutations in French-Canadian hereditary spastic paraplegia subjects. Can J Neurol Sci 39 91-94... 

Q, He SB, Fu Y, Chen SD (2011)Novel mutations in the C YP7B1 gene cause hereditary spastic paraplegia. Mov Disord 26 1354-1356... 

Finsterer J, Loscher W, Quasthoff S, Wanschitz J, Auer-Grumbach M, Stevanin G (2012) Hereditary spastic paraplegias with autosomal dominant recessive, X-linked, or maternal trait of inheritance. JNeurol Sci 318 1-18... 

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