SPG11--the most common type of recessive spastic paraplegia in 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.


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.


CONCLUSIONS
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.
Erichsen
A K
AK
Department of Neurology, Ullevål University Hospital, Oslo, Norway. anhs@uus.no
Stevanin
G
G
Denora
P
P
Brice
A
A
Tallaksen
C M E
CM
D000328:Adult; D003337:Corpus Callosum / Q000473:pathology; D005260:Female; D005808:Genes, Recessive / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000209:etiology; D008297:Male; D008875:Middle Aged; D009664:Norway; D010375:Pedigree; D010641:Phenotype; D011506:Proteins / Q000235:genetics*; D015419:Spastic Paraplegia, Hereditary / Q000235:genetics* / Q000473:pathology* / Q000523:psychology
D011506:Proteins; C520412:SPG11 protein, human