SPG11 – the most common type of recessive spastic paraplegia in Norway?
Acta Neurol Scand. 2008-05-01; 117(s188): 46-50
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1. Acta Neurol Scand Suppl. 2008;188:46-50. doi: 10.1111/j.1600-0404.2008.01031.x.
SPG11–the most common type of recessive spastic paraplegia in Norway?
Erichsen AK(1), Stevanin G, Denora P, Brice A, Tallaksen CM.
(1)Department of Neurology, Ullevål University Hospital, Oslo, Norway.
BACKGROUND: Hereditary spastic paraplegias (HSP) are neurodegenerative diseases
mainly characterized by lower limb spasticity with additional neurological
symptoms and signs in complicated forms. Among the many autosomal recessive
forms, SPG11 appears to be one of the most frequent.
OBJECTIVE: Our objective was to select potential SPG11 patients based on
phenotypes in our material, identify eventual disease-causing variants with the
collaboration of laboratories abroad, estimate the frequency and spectrum of
SPG11-mutations and describe their associated phenotypes.
MATERIAL AND METHODS: Two isolated cases and two affected members of one family
with cognitive impairment and confirmed thin corpus callosum on magnetic
resonance imaging were selected from our database for inclusion into a
multicenter study. Results – Mutations were found in the two isolated cases but
not in the proband of the family.
CONCLUSION: We present the first SPG11-HSP in the Norwegian population. SPG11
should be suspected in patients with isolated or recessive HSP, thin corpus
callosum and mental retardation.
PMID: 18439221 [Indexed for MEDLINE]