RT Journal Article
SR Electronic
T1 Adrenomyeloneuropathy Diagnosed in a Young Female with Spastic Paraparesis after Full Exome Sequencing (P2.064)
JF Neurology
JO Neurology
FD Lippincott Williams & Wilkins
SP P2.064
VO 82
IS 10 Supplement
A1 Garcia, Tania
A1 Ordoñez Ugalde, A
A1 Quintans, Beatriz
A1 Sobrido, Maria Jesus
A1 Amigo, M. C.
A1 Costa Arpin, Eva
A1 Pardo-Fernandez, Julio
YR 2014
UL http://n.neurology.org/content/82/10_Supplement/P2.064.abstract
AB OBJECTIVE: We report a female with an early onset familial spastic paraplegia (FSP) phenotype, who carries a mutation of the ABCD1 gene. BACKGROUND: Adrenomyeloneuropathy (AMN), is an X-linked recessive disorder, characterized by impaired peroxisomal beta-oxidation of very long-chain fatty acids (VLCFA) and their accumulation in plasma and all tissues. It was assumed that female carriers remain asymptomatic, however many of them develop mild neurological abnormalities. DESIGN/METHODS: A 43-year-old female without medical history developed a progressive spastic paraparesis at the age of 23, with negative genetic investigations in SPG4-SPG3A-SPG6-SPG31 genes. Several family members from two generations were studied RESULTS: Neurological examination revealed weakness and spasticity in the lower limbs with brisk reflexes in all four limbs, ankle clonus and bilateral Babinski sign. Sensory examination showed loss of vibration in lower limbs with normal sensation to pinprick, fine touch and propioception. Laboratory investigations, serological tests, brain and spinal cord MRI, nerve conduction and needle EMG were normal. A moderate conduction delay in the somatosensory evoked potentials was found. Her father and four of his female cousins developed progressive difficulty in walking with cramps and lower limb pain between 20-50 years of age, and some men in the family had died at an early age of unknown causes. After negative results of FSP genetic studies, full exome sequencing revealed the presence of p.R418W mutation in the ABCD1 gene. This mutation was confirmed by sequencing in several family members. CONCLUSIONS: The full exome ultrasecuenciation may achieve unsuspected diagnoses. Female carriers of AMN can present a classic phenotype of FSP, so the differential diagnosis of spastic paraparesis should include this entity, except in obvious cases of male-male transmission. Study Supported by: Health Research Fund, Institute of Health Carlos III (PS09/01830).Disclosure: Dr. Garcia has nothing to disclose. Dr. Ordoñez Ugalde has nothing to disclose. Dr. Quintans has nothing to disclose. Dr. Sobrido has received personal compensation for activities with Merck-MSD and GlaxoSmithKline Inc. Dr. Amigo has received research support from Teva Neuroscience. Dr. Costa Arpin has nothing to disclose. Dr. Pardo-Fernandez has nothing to disclose.Tuesday, April 29 2014, 7:30 am-11:00 am