Clinical and genetic study of a novel mutation in the REEP1 gene.
OBJECTIVE
To examine the gene mutation associated with clinical phenotype from a Chinese kindred with autosomal dominant hereditary spastic paraplegia (ADHSP).


METHODS
To perform linkage analysis and mutation detection. For two affected individual of the family, clinical analysis, electrophysiological examination, and MRI of brain and spinal cord were also performed.


RESULTS
A novel splice-site mutation (REEP1 c417+1g>a) was identified. Central motor conduction time to the first metatarsal interosseus and anterior tibial muscles were clearly prolonged. Thoracic cord atrophy was found from T1 to T10.


CONCLUSIONS
Our study supports that mutations in REEP1 cause ADHSP and demonstrates genetic heterogeneity in ADHSP. Synapse
Liu
Shi Guo
SG
Postgraduate School, Peking Union Medical College, Dong Cheng, Beijing.
Che
Feng Yuan
FY
Heng
Xue Yuan
XY
Li
Fei Feng
FF
Huang
Shang Zhi
SZ
Lu
De Guo
DG
Hou
Su Jun
SJ
Liu
Shi En
SE
Wang
Qiang
Q
Wang
Hai Ping
HP
Ma
Xu
X
D000293:Adolescent; D000328:Adult; D000368:Aged; D044466:Asian People; D004252:DNA Mutational Analysis; D004558:Electric Stimulation; D004576:Electromyography; D019054:Evoked Potentials, Motor / Q000502:physiology; D005192:Family Health; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D009431:Neural Conduction / Q000235:genetics / Q000502:physiology; D011930:Reaction Time / Q000235:genetics; D015419:Spastic Paraplegia, Hereditary / Q000235:genetics* / Q000473:pathology* / Q000503:physiopathology; D013116:Spinal Cord / Q000473:pathology
D026901:Membrane Transport Proteins; C495318:REEP1 protein, human