TY - JOUR
T1 - Hereditary spastic paraplegia associated with axonal neuropathy
T2 - A novel mutation of SPG3A in a large family
AU - Al-Maawali, Almundher
AU - Rolfs, Arndt
AU - Klingenhaeger, Michael
AU - Yoon, Grace
PY - 2011/3
Y1 - 2011/3
N2 - Spastic paraplegia Type 3A is an autosomal-dominant pure or uncomplicated hereditary spastic paraplegia. It is caused by mutations in SPG3A, the only gene associated with this condition. We identified a novel mutation, c.1040T>C (p. M347T), in a family with axonal neuropathy in addition to spastic paraplegia. This expands the spectrum of neurologic complications associated with SPG3A and highlights the importance of long-term follow-up and neurological surveillance in this patient population.
AB - Spastic paraplegia Type 3A is an autosomal-dominant pure or uncomplicated hereditary spastic paraplegia. It is caused by mutations in SPG3A, the only gene associated with this condition. We identified a novel mutation, c.1040T>C (p. M347T), in a family with axonal neuropathy in addition to spastic paraplegia. This expands the spectrum of neurologic complications associated with SPG3A and highlights the importance of long-term follow-up and neurological surveillance in this patient population.
KW - HSP
KW - SPG3A
KW - atlastin
KW - axonal neuropathy
KW - hereditary spastic
KW - paraplegia
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U2 - 10.1097/CND.0b013e318209efc6
DO - 10.1097/CND.0b013e318209efc6
M3 - Article
C2 - 21321493
AN - SCOPUS:79952164572
SN - 1522-0443
VL - 12
SP - 143
EP - 146
JO - Journal of Clinical Neuromuscular Disease
JF - Journal of Clinical Neuromuscular Disease
IS - 3
ER -