Familial spastic paraplegia with neuropathy and poikiloderma. A new syndrome?
We report a case study spanning three generations of familial spastic paraplegia, distal amyotrophy and poikiloderma. This study is the first description of an association between these three disorders. The gait disorder, the sensory and motor involvement and the skin disorder coincide in all the affected members, suggesting autosomal dominant inheritance with complete penetrance.
Antiñolo
G
G
Unidad de Genética Humana, Hospital Universitario Virgen del Rocío, Seville, Spain.
Nieto
M
M
Borrego
S
S
Sierra
J
J
Rufo
M
M
Siljeström
M L
ML
D002648:Child; D002675:Child, Preschool; D005260:Female; D015417:Hereditary Sensory and Motor Neuropathy / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D008297:Male; D010375:Pedigree; D011038:Rothmund-Thomson Syndrome / Q000235:genetics*; D015419:Spastic Paraplegia, Hereditary / Q000235:genetics* / Q000503:physiopathology; D013577:Syndrome