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Abstract Details

Identical twins with progressive gait disturbance due to a novel SPG11 mutation
Child Neurology and Developmental Neurology
P15 - Poster Session 15 (12:00 PM-1:00 PM)
5-009

To report a unique case of hereditary spastic paraplegia and polyneuropathy.
SPG11 encodes for spatacsin, a protein involved in axonal transport. Mutations in the SPG11 gene are implicated in a group of heterogenous autosomal recessive disorders: hereditary spastic paraplegia with thin corpus callosum, Charcot-Marie-Tooth disease type 2X, and amyotrophic lateral sclerosis type 5.
A 17 year old girl presented with one year of progressive gait instability and right foot drop. She stopped playing volleyball due to frequent falls. On physical exam, she had thoracic scoliosis, bilateral pes cavus, atrophy of the hands and feet, and mild weakness of finger flexion, ankle dorsiflexion, and ankle eversion. She had decreased vibration sensation in the toes and hyperreflexia. EMG/NCS showed a chronic right peroneal axonal mononeuropathy. The patient’s twin sister also had progressive gait disturbance. On physical exam, she had thoracolumbar scoliosis, bilateral pes cavus, ankle contractures, distal atrophy, distal weakness, and hyperreflexia. The twins’ maternal grandmother had bilateral pes cavus.
Genetic testing of the patients and their parents established the diagnosis. Two distinct pathogenic variants were identified in SPG11 on opposite chromosomes. One variant was from father, c.5456_5457delAG (p.Glu1819Alafs*10), and one variant was from mother, c.7087_7115delins29 (p.Tyr2363Asnfs*10).
Mutations in SPG11 can result in a mixed phenotype of upper and lower motor neuron signs. An autosomal recessive pattern of inheritance can clue the provider into the correct diagnosis.
Authors/Disclosures
Rahul D. Abhyankar, MD (JWM Neurology)
PRESENTER 		No disclosure on file
Susan T. Iannaccone, MD, FÂ鶹´«Ã½Ó³»­ (Department of Pediatrics) Dr. Iannaccone has received personal compensation in the range of $500-$4,999 for serving as a Consultant for AveXis. Dr. Iannaccone has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Biogen. Dr. Iannaccone has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Sarepta. Dr. Iannaccone has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for AveXis. Dr. Iannaccone has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Sarepta. Dr. Iannaccone has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Catabasis. The institution of Dr. Iannaccone has received research support from AveXis. The institution of Dr. Iannaccone has received research support from Biogen. The institution of Dr. Iannaccone has received research support from Sarepta. The institution of Dr. Iannaccone has received research support from PTC Therapeutics. The institution of Dr. Iannaccone has received research support from FibroGen. The institution of Dr. Iannaccone has received research support from ReveraGen. The institution of Dr. Iannaccone has received research support from MDA. The institution of Dr. Iannaccone has received research support from PPMD. The institution of Dr. Iannaccone has received research support from NIH. Dr. Iannaccone has received personal compensation in the range of $0-$499 for serving as a grant reviewer with NIH.