title: Rapidly deteriorating course in Dutch hereditary spastic paraplegia type 11 patients.
abstract: Although SPG11 is the most common complicated hereditary spastic paraplegia, our knowledge of the long-term prognosis and life expectancy is limited. We therefore studied the disease course of all patients with a proven SPG11 mutation as tested in our laboratory, the single Dutch laboratory providing SPG11 mutation analysis, between 1 January 2009 and 1 January 2011. We identified nine different SPG11 mutations, four of which are novel, in nine index patients. Eighteen SPG11 patients from these nine families were studied by means of a retrospective chart analysis and additional interview/examination. Ages at onset were between 4 months and 14 years; 39% started with learning difficulties rather than gait impairment. Brain magnetic resonance imaging showed a thin corpus callosum and typical periventricular white matter changes in the frontal horn region (known as the 'ears-of the lynx'-sign) in all. Most patients became wheelchair bound after a disease duration of 1 to 2 decades. End-stage disease consisted of loss of spontaneous speech, severe dysphagia, spastic tetraplegia with peripheral nerve involvement and contractures. Several patients died of complications between ages 30 and 48 years, 3-4 decades after onset of gait impairment. Other relevant features during the disease were urinary and fecal incontinence, obesity and psychosis. Our study of 18 Dutch SPG11-patients shows the potential serious long-term consequences of SPG11 including a possibly restricted life span.
authors: Department of Neurology, Radboud University, Nijmegen Medical Centre, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands.
authors: Susanne T
authors: ST
authors: de Bot
authors: Rogier C
authors: RC
authors: Burggraaff
authors: Johanna C
authors: JC
authors: Herkert
authors: Helenius J
authors: HJ
authors: Schelhaas
authors: Bart
authors: B
authors: Post
authors: Adinda
authors: A
authors: Diekstra
authors: Reinout O
authors: RO
authors: van Vliet
authors: Marjo S
authors: MS
authors: van der Knaap
authors: Erik-Jan
authors: EJ
authors: Kamsteeg
authors: Hans
authors: H
authors: Scheffer
authors: Bart P
authors: BP
authors: van de Warrenburg
authors: Corien C
authors: CC
authors: Verschuuren-Bemelmans
authors: Hubertus P H
authors: HP
authors: Kremer
mesh_terms: D000293:Adolescent; D000328:Adult; D001921:Brain / Q000473:pathology; D018450:Disease Progression; D005500:Follow-Up Studies; D005654:Fundus Oculi; D006801:Humans; D008279:Magnetic Resonance Imaging; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D009426:Netherlands; D010641:Phenotype; D011506:Proteins / Q000235:genetics; D015419:Spastic Paraplegia, Hereditary / Q000235:genetics / Q000473:pathology*; D055815:Young Adult
chemical_list: D011506:Proteins; C520412:SPG11 protein, human