TITLE

A predominantly cervical form of spinal muscular atrophy

AUTHOR(S)
Goutières, F; Bogicevic, D; Aicardi, J
PUB. DATE
March 1991
SOURCE
Journal of Neurology, Neurosurgery & Psychiatry;Mar1991, Vol. 54 Issue 3, p223
SOURCE TYPE
Academic Journal
DOC. TYPE
Article
ABSTRACT
No abstract available.
ACCESSION #
66120191

 

Related Articles

  • Autosomal dominant congenital spinal muscular atrophy: a true form of spinal muscular atrophy caused by early loss of anterior horn cells. Oates, Emily C.; Reddel, Stephen; Rodriguez, Michael L.; Gandolfo, Luke C.; Bahlo, Melanie; Hawke, Simon H.; Lamandé, Shireen R.; Clarke, Nigel F.; North, Kathryn N. // Brain: A Journal of Neurology;Jun2012, Vol. 135 Issue 6, p1714 

    Autosomal dominant congenital spinal muscular atrophy is characterized by predominantly lower limb weakness and wasting, and congenital or early-onset contractures of the hip, knee and ankle. Mutations in TRPV4, encoding a cation channel, have recently been identified in one large dominant...

  • Spinal muscular atrophy, Dandy-Walker complex, and cataracts in two siblings: a new entity? Panas, M.; Spengos, K.; Tsivgoulis, G.; Kalfakis, N.; Sfagos, C.; Vassilopoulos, D.; Markomichelakis, N. // Journal of Neurology, Neurosurgery & Psychiatry;Aug2005, Vol. 76 Issue 8, p1183 

    Presents a letter to the editor related to spinal muscular atrophy.

  • Hirayama Disease: A Rare Neurological Entity. Shrestha, Isha Dhungana; Shrestha, Prabin // Nepal Journal of Neuroscience;2013, Vol. 10 Issue 1, p40 

    Hirayama disease a condition with juvenile muscular amyotrophy of distal upper limbs is a rare disease predominantly affecting the anterior horn cells of the cervical cord in young men. We report the diagnostic radiological findings of a case of Hirayama disease, a kind of cervical myelopathy...

  • Clinical and Genetic Study of Spinal Muscular Atrophies in Oman. Koul, Roshan; Futaisi, Amna Al; Chacko, Alexander; Rao, Vasudev; Simsek, Mehmet; Muralitharan, Shanmugakonar; Ganguly, Shyarn S.; Bayourni, Riad // Journal of Child Neurology;Oct2007, Vol. 22 Issue 10, p1227 

    This article presents a retrospective study and a prospective study on spinal muscular atrophy in Oman. For the retrospective study, data were collected from neurophysiology records, from both inpatient and outpatient files. The prospective study was conducted on children as they presented to...

  • A DYNC1H1 mutation causes a dominant spinal muscular atrophy with lower extremity predominance. Tsurusaki, Yoshinori; Saitoh, Shinji; Tomizawa, Kazuhiro; Sudo, Akira; Asahina, Naoko; Shiraishi, Hideaki; Ito, Jun-ichi; Tanaka, Hajime; Doi, Hiroshi; Saitsu, Hirotomo; Miyake, Noriko; Matsumoto, Naomichi // Neurogenetics;Nov2012, Vol. 13 Issue 4, p327 

    Whole-exome sequencing of two affected sibs and their mother who showed a unique quadriceps-dominant form of neurogenic muscular atrophy disclosed a heterozygous DYNC1H1 mutation [p.H306R (c.917A>G)]. The identical mutation was recently reported in a pedigree with the axonal form of...

  • Spinal Muscular Atrophy.  // PN;Jun2013, Vol. 67 Issue 6, p57 

    The article reviews the book ``Understanding Spinal Muscular Atrophy (SMA),'' by Families of SMA.

  • Spine Deformity in Spinal Muscular Atrophy. Sucato, Daniel J. // Journal of Bone & Joint Surgery, American Volume;Feb2007 Supplement 1, Vol. 89-A, p148 

    The article discusses the occurrence of spine deformity in patients with spinal muscular atrophy. Key issues examined include the classification of spinal muscular atrophy, the genetic basis for spinal muscular atrophy and the prevalence of scoliosis that is directly related to the ambulatory...

  • Point Mutation Screening Service for Spinal Muscular Atrophy.  // Journal of Medical Genetics;Sep2007 Supplement 1, Vol. 44, pS79 

    An abstract of the study "Point Mutation Screening Service for Spinal Muscular Atrophy" is presented.

  • Long-Term Survival in a Child With Arthrogryposis Multiplex Congenita and Spinal Muscular Atrophy. Falsaperla, Raffaele; Romeo, Giusi; Di Giorgio, Angelo; Pavone, Piero; Parano, Enrico; Connolly, Anne M. // Journal of Child Neurology;Dec2001, Vol. 16 Issue 12, p934 

    Spinal muscular atrophy type 0 is a severe form of spinal muscular atrophy that is usually fatal in the first months of life. These children present with arthrogryposis multiplex congenita and respiratory compromise. We describe a child with spinal muscular atrophy and arthrogryposis multiplex...

  • Severe Spinal Muscular Atrophy Variant Associated With Congenital Bone Fractures. Felderhoff-Mueser, Ursula; Grohmann, Katja; Harder, Anja; Stadelmann, Christine; Zerres, Klaus; B�hrer, Christoph; Obladen, Michael // Journal of Child Neurology;Sep2002, Vol. 17 Issue 9, p718 

    Infantile autosomal recessive spinal muscular atrophy (type I) represents a lethal disorder leading to progressive symmetric muscular atrophy of limb and trunk muscles. Ninety-six percent cases of spinal muscular atrophy type I are caused by deletions or mutations in the survival motoneuron gene...

Share

Read the Article

Courtesy of VIRGINIA BEACH PUBLIC LIBRARY AND SYSTEM

Sign out of this library

Other Topics