Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q1 1.2–13.3

  title={Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q1 1.2–13.3},
  author={L. M. Brzustowicz and Thomas Lehner and Lucio H Castilla and Graciela K. Penchaszadeh and Kirk C. Wilhelmsen and Rachael J. Daniels and Kay E. Davies and M. Leppert and Fred A. Ziter and Dan Wood and Victor Dubowitz and Klaus Zerres and Irena Hausmanowa-Petrusewicz and Jurg Ott and T. L. Munsat and T. Conrad Gilliam},
SPINAL muscular atrophy (SMA) describes a group of heritable degenerative diseases that selectively affect the α-motor neuron. Childhood-onset SMAs rank second in frequency to cystic fibrosis among autosomal recessive disorders, and are the leading cause of heritable infant mortality. Predictions that genetic heterogeneity underlies the differences between types of SMA, together with the aggressive nature of the most-severe infantile form, make linkage analysis of SMA potentially complex. We… 
Genetic homogeneity between acute and chronic forms of spinal muscular atrophy
THE childhood-onset spinal muscular atrophies (SMAs) describe a heterogeneous group of disorders that selectively affect the alpha motoneuron. We have shown that chronic childhood-onset SMA (SMA II
Deletions in the survival motor neuron gene in Turkish spinal muscular atrophy patients
Three candidate genes have been identified in the SMA region and single base substitutions in exons 7 and 8 allow distinction between SMN, the telomeric copy, and cBCD541, the centromeric copy of the survival motor neuron gene.
De novo and inherited deletions of the 5q13 region in spinal muscular atrophies.
Results indicate that deletion events are statistically associated with the severe form of spinal muscular atrophy.
Molecular studies of spinal muscular atrophy
Clinical and molecular analysis of spinal muscular atrophy in Brazilian patients
Two candidate genes, the survival motor neuron (SMN) gene and the neuronal apoptosis inhibitory protein (NAIP) gene, have been identified; SMN is deleted in most SMA patients; correlation between deletions of one or both genes and phenotype severity was found.
Childhood-onset proximal spinal muscular atrophy (SMA) is characterized by degeneration of the anterior horn cells of the spinal cord leading to symmetrical limb and trunk paralysis. SMA is the
Large scale deletions of the 5q13 region are specific to Werdnig-Hoffmann disease.
The presence of large scale deletions involving these loci is specific to Werdnig-Hoffman disease (type I) and allows one to predict the severity of the disease in this series.
Molecular analysis of patients with recessive 5q-spinal muscular atrophy : increased diagnostic and prognostic sensitivity /
The results of studies designed to increase understanding of the prognostic value of SMN2 gene copy number in the modification of the SMA phenotype are presented, as well as to increase the diagnostic sensitivity of molecular analysis o f spinal muscular atrophy patients.


A clinical and genetic study of spinal muscular atrophy of adult onset: the autosomal recessive form as a discrete disease entity.
A genetic analysis of all cases of SMA occurring over a ten-year period in North-east England has shown that chronic proximal SMA of adult onset is a distinct clinical and genetic entity, and is not a variant of the more common and relatively benign late juvenile cases.
Chronic generalized spinal muscular atrophy of infancy and childhood
Patients with this characteristic clinical syndrome comprise approximately one-fifth of children with chronic spinal muscular atrophy, and management should be based on vigorous antibiotic therapy, orthopaedic and neurological surveillance, and a carefully planned educational programme aimed at realistic employment in late adolescence.
Spinal muscular atrophy type II
A form of spinal muscular atrophy (S. M. A.) intermediate in severity between the infantile (Werd‐nig‐Hoffmann or type I) and juvenile (Kugelberg‐Welander or type III) forms of this disease has been
Molecular analysis of Duchenne and Becker muscular dystrophies.
The location of deletion breakpoints in DMD and BMD patients are examined and the molecular analysis of these deletions are presented in the context of transcriptional and translational studies of DMD gene expression and the manifestation of the clinical phenotype.
Juvenile spinal muscular atrophy: A new hexosaminidase deficiency phenotype
A 24‐year‐old Ashkenazi Jewish man was evaluated for a nine‐year history of progressive leg weakness with fasciculations and Hexosaminidase A in serum and leukocytes was severely decreases in the patient and partially decreased in the parents and a brother.
Muscle disorders in childhood.
  • V. Dubowitz
  • Medicine, Psychology
    Major problems in clinical pediatrics
  • 1978
The diagnosis and classification of the Neuromuscular Disorders is presented, with a focus on the disorders with Contractures and Rigidity.
N‐acetyl‐β‐hexosaminidase β locus defect and juvenile motor neuron disease: A case study
A patient with partial deficiency of N‐acetyl‐ß‐hexosaminidase (Hex) developed a progressive motor neuron syndrome beginning at age 7, characterized by dysarthria, muscle wasting, fasciculations, and
The gene for familial polyposis coli maps to the long arm of chromosome 5.
The inherited genetic defect in adenomatous polyposis has been localized to a small region on the long arm of chromosome 5. Sixteen DNA marker loci were used to construct a linkage map of the