Primary lateral sclerosis may occur within familial amyotrophic lateral sclerosis pedigrees.
Primary lateral sclerosis (PLS) is considered to be a specific sporadic motor neuron disorder, but some reports have shown familial history of motor neuron disorders that may comprise PLS cases. Here we report a novel pedigree highlighting an intrafamilial occurrence of PLS and amyotrophic lateral sclerosis (ALS) cases. These observations strengthen the hypothesis that PLS may represent an ALS phenotype with a long evolution and strongly suggest the involvement of common genetic factors that can lead to upper and lower motor neuron death.
Praline
Julien
J
ALS Centre, Tours, France. julien.praline@med.univ-tours.fr <julien.praline@med.univ-tours.fr>
Guennoc
Anne-Marie
AM
Vourc'h
Patrick
P
De Toffol
Bertrand
B
Corcia
Philippe
P
D000368:Aged; D004576:Electromyography; D019054:Evoked Potentials, Motor; D005192:Family Health; D005260:Female; D006801:Humans; D008875:Middle Aged; D016472:Motor Neuron Disease / Q000235:genetics* / Q000503:physiopathology*; D010375:Pedigree; D010641:Phenotype