Abstract:
:Autosomal dominant familial spastic paraplegias (AD-FSP) are a group of genetically heterogeneous diseases characterised by a progressive spasticity of the lower limbs. Three loci have already been identified by genetic linkage studies on chromosomes 2p, 14q and 15q. Here we present linkage data from a large German family displaying AD-FSP with anticipation which confirms the existence of the FSP2 locus on chromosome 2p. The recombination events observed in our family define the critical region for the FSP2 gene to be within a 4-cM interval, flanked by markers D2S400 and D2S367. Moreover, clinical data from our family show evidence of anticipation, a phenomenon caused by trinucleotide expansion in several other neurodegenerative diseases.
journal_name
Hum Genetjournal_title
Human geneticsauthors
Bürger J,Metzke H,Paternotte C,Schilling F,Hazan J,Reis Adoi
10.1007/s004390050223subject
Has Abstractpub_date
1996-09-01 00:00:00pages
371-5issue
3eissn
0340-6717issn
1432-1203journal_volume
98pub_type
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