Pregled bibliografske jedinice broj: 128311
Motor neuron disease (MND) in a girl associated with neuropathy, mitochondrial abnormalities and centromeric deletion of survival motor neuron (SMN) gene on chromosome 5q13
Motor neuron disease (MND) in a girl associated with neuropathy, mitochondrial abnormalities and centromeric deletion of survival motor neuron (SMN) gene on chromosome 5q13 // Brain and Development / Xi-Ru Wu (ur.).
Peking, Kina, 2002. (poster, međunarodna recenzija, sažetak, stručni)
CROSBI ID: 128311 Za ispravke kontaktirajte CROSBI podršku putem web obrasca
Naslov
Motor neuron disease (MND) in a girl associated with neuropathy, mitochondrial abnormalities and centromeric deletion of survival motor neuron (SMN) gene on chromosome 5q13
Autori
Barisic, Nina ; Sertic, Jadranka ; Pazanin, Leo
Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, stručni
Izvornik
Brain and Development
/ Xi-Ru Wu - , 2002
Skup
The 9th International Child Neurology Congress and the 7th Asian and Oceanian Congress of Child Neurology
Mjesto i datum
Peking, Kina, 20.09.2002. - 25.09.2002
Vrsta sudjelovanja
Poster
Vrsta recenzije
Međunarodna recenzija
Ključne riječi
Motor Neuron Disease; Spinal Muscular Atrophy; Neuropathy; Mitochondrial abnormality
Sažetak
Childhood SMA is the most common MND. Homozygous centromeric survival motor neuron (SMNc) gene deletions are rarely described in SMA but are present in 36% of lower MND cases. We present a 12-year-old girl of normal psychomotor development. At the age of 8, she developed progressive walking difficulties.On examination peroneal gait, left leg hypotrophy, radicular pain, absent triceps sure jerks and bilateral Babinski sign were registered associated with extensive right leg angiokeratoma. Brain CT and MRI spinal scan were normal. Clinical and electromyographical progression of neurogenic lesion with decreasing of motor nerve conduction occurred during 4 years, followed by involvement of left upper extremity and development of cavus foot on the right. Cerebrospinal fluid, immunologic tests and alpha-galactosidase activity (Fabry disease) were normal. Increased vascular resistance without stenotic abnormalities was recorded on both legs by Doppler ultrasonography. DNA analysis revealed SMNc deletion. Muscle biopsy showed neurogenic atrophy and accumulation of abnormal mitochondria. Sural nerve biopsy showed decreased number of myelinated axons with scarce onion bulbs. SMNc deletion probably acts as factor of increased susceptibility for MND. Although SMN gene deletion detection is useful in atypical SMA it might be coincidental finding in MND associated with clinical features of other pathogenetic origin.
Izvorni jezik
Engleski
Znanstvena područja
Kliničke medicinske znanosti
