Hereditary spastic paraplegia caused by the PLP1 'rumpshaker mutation'.
Svenstrup K, Giraud G, Boespflug-Tanguy O, Danielsen ER, Thomsen C, Rasmussen K, Law I, Vogel A, Stokholm J, Crone C, Hjermind LE, Nielsen JE.
Svenstrup K, et al. Among authors: crone c.
J Neurol Neurosurg Psychiatry. 2010 Jun;81(6):666-72. doi: 10.1136/jnnp.2009.180315. Epub 2009 Dec 1.
J Neurol Neurosurg Psychiatry. 2010.
PMID: 19955111