J Clin Neurol.  2019 Apr;15(2):265-266. 10.3988/jcn.2019.15.2.265.

Pure or Complex Hereditary Spastic Paraplegia Type 4?

  • 1Krankenanstalt Rudolfstiftung, Messerli Institute, Veterinary University of Vienna, Vienna, Austria. fifigs1@yahoo.de


No abstract available.

MeSH Terms

Spastic Paraplegia, Hereditary*


1. Yang J, Seo JY, Lee KW, Park HM. Novel pathogenic variant of SPAST (c.1413+4A>G) in a patient with hereditary spastic paraplegia. J Clin Neurol. 2019; 15:120–121.
2. De Bot ST, Van den Elzen RT, Mensenkamp AR, Schelhaas HJ, Willemsen MA, Knoers NV, et al. Hereditary spastic paraplegia due to SPAST mutations in 151 Dutch patients: new clinical aspects and 27 novel mutations. J Neurol Neurosurg Psychiatry. 2010; 81:1073–1078.
3. Kumar KR, Sue CM, Burke D, Ng K. Peripheral neuropathy in hereditary spastic paraplegia due to spastin (SPG4) mutation--a neurophysiological study using excitability techniques. Clin Neurophysiol. 2012; 123:1454–1459.
4. Bertelli M, Cecchin S, Lorusso L, Sidoti V, Fabbri A, Lapucci C, et al. Identification of a novel mutation in the spastin gene (SPG4) in an Italian family with hereditary spastic paresis. Panminerva Med. 2006; 48:193–197.
5. Nielsen JE, Johnsen B, Koefoed P, Scheuer KH, Grønbech-Jensen M, Law I, et al. Hereditary spastic paraplegia with cerebellar ataxia: a complex phenotype associated with a new SPG4 gene mutation. Eur J Neurol. 2004; 11:817–824.
6. Ribaï P, Depienne C, Fedirko E, Jothy AC, Viveweger C, Hahn-Barma V, et al. Mental deficiency in three families with SPG4 spastic paraplegia. Eur J Hum Genet. 2008; 16:97–104.
7. Roeben B, Schüle R, Ruf S, Bender B, Alhaddad B, Benkert T, et al. SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large family. J Med Genet. 2018; 55:39–47.
8. Koh K, Ishiura H, Tsuji S, Takiyama Y. JASPAC: Japan Spastic Paraplegia Research Consortium. Brain Sci. 2018; 8:153.
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