A new locus for recessive distal spinal muscular atrophy at Xq13.1-q21

Takata, Reinaldo Issao

doi:10.1136/jmg.2003.013201

Cited by 34 publications

(28 citation statements)

References 17 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…49–51 Detailed genetic analyses disclosed the cause of the newly recognized disorder to be missense mutations affecting the carboxyl half of ATP7A (leading to one or other of the amino acid substitutions Thr994Ile or Pro1386Ser) that had not been previously reported in patients with Menkes disease or OHS. The dramatic differences in age of presentation and overall clinical–biochemical phenotype between ATP7A-related distal motor neuropathy and Menkes disease or OHS implies a distinct disease mechanism in the former.…”

Section: Introductionmentioning

confidence: 99%

ATP7A-related copper transport diseases—emerging concepts and future trends

2011

View full text Add to dashboard Cite

This Review summarizes recent advances in understanding copper-transporting ATPase 1 (ATP7A), and examines the neurological phenotypes associated with dysfunction of this protein. Involvement of ATP7A in axonal outgrowth, synapse integrity and neuronal activation underscores the fundamental importance of copper metabolism to neurological function. Defects in ATP7A cause Menkes disease, an infantile-onset, lethal condition. Neonatal diagnosis and early treatment with copper injections enhance survival in patients with this disease, and can normalize clinical outcomes if mutant ATP7A molecules retain small amounts of residual activity. Gene replacement rescues a mouse model of Menkes disease, suggesting a potential therapeutic approach for patients with complete loss-of-function ATP7A mutations. Remarkably, a newly discovered ATP7A disorder—isolated distal motor neuropathy—has none of the characteristic clinical or biochemical abnormalities of Menkes disease or its milder allelic variant occipital horn syndrome (OHS), instead resembling Charcot–Marie–Tooth disease type 2. These findings indicate that ATP7A has a crucial but previously unappreciated role in motor neuron maintenance, and that the mechanism underlying ATP7A-related distal motor neuropathy is distinct from Menkes disease and OHS pathophysiology. Collectively, these insights refine our knowledge of the neurology of ATP7A-related copper transport diseases and pave the way for further progress in understanding ATP7A function.

show abstract

Section: Introductionmentioning

confidence: 99%

ATP7A-related copper transport diseases—emerging concepts and future trends

2011

View full text Add to dashboard Cite

show abstract

“…In addition to foot deformities, gait instability has been reported. 59 Even though patient II-1 of family G had no diagnosed muscle disease, it is conceivable that his gait problems constitute part of the DSMAX syndrome, as may the delayed motor coordination of patients III-2 and III-3 from family H. As no cognitive or sensory impairment has been described to be part of this syndrome, the mental retardation diagnosed in the patients we have described appears unrelated to DSMAX. The fact that female carriers in our two families did not show signs of clinical conditions is consistent with reports that female carriers appear to be clinically normal.…”

Section: Deletion Mapping: Understanding the Syndromic Aspect Displaymentioning

confidence: 77%

Syndromic Choroideremia: Sublocalization of Phenotypes Associated with Martin-Probst Deafness Mental Retardation Syndrome

Poloschek

Kloeckener-Gruissem

Hansen

et al. 2008

Invest. Ophthalmol. Vis. Sci.

View full text Add to dashboard Cite

Both CHM families are the first to be described with large deletions that manifest with a mild syndromic phenotype. The location of the deletions indicates that they may allow sublocalization of the syndromic features to the most proximal region of X-linked distal spinal muscular atrophy (DSMAX) and Martin-Probst deafness mental retardation syndrome (MPDMRS). The FAF pattern is specific to CHM carriers and thus will help to identify and differentiate between carriers of other X-linked recessive carrier states such as in X-linked retinitis pigmentosa.

show abstract

“…[19][20][21] The family's clinical syndrome suggests that the disorder may be allelic to a juvenile form of X-linked distal spinal muscular atrophy reported in a Brazilian kindred. 13 Clinically, the syndrome reported in the Brazilian family is more severe because onset is in childhood, but the syndromes are otherwise similar. It is likely that the two families will have different mutations in the same gene and could reflect the age-at-onset variability seen in disorders such as Werdnig-Hoffman and Kugelberg-Welander syndrome or Duchenne and Becker muscular dystrophy.…”

Section: Confirmation and Refinement Of The Dsmax Locusmentioning

confidence: 95%

“…We report genetic linkage studies that have mapped the disease locus in this family to the previously reported recessive distal spinal muscular atrophy (DSMAX) locus on chromosome Xq13.1-q21. 13 METHODS Family ascertainment. We examined a threegeneration family with probable X-lined adult-onset hereditary motor neuron disease.…”

mentioning

confidence: 99%

X-linked distal hereditary motor neuropathy maps to the DSMAX locus on chromosome Xq13.1-q21

Kennerson¹,

Nicholson²,

Kowalski³

et al. 2009

Neurology

View full text Add to dashboard Cite

We have identified a family with adult-onset distal hereditary motor neuropathy that refines the locus reported for juvenile distal spinal muscular atrophy (DSMAX) on chromosome Xq13.1-q21. Exclusion of mutations in the coding and regulatory region of the GJB1 gene eliminated the CMTX1 locus as a cause of disease in this family. Nine positional candidate genes in the refined interval underwent mutation analysis and were eliminated as the pathogenic cause of DSMAX in this family. The syndrome in this family may be allelic to the juvenile distal spinal muscular atrophy first reported at this locus.

show abstract

A new locus for recessive distal spinal muscular atrophy at Xq13.1-q21

Cited by 34 publications

References 17 publications

ATP7A-related copper transport diseases—emerging concepts and future trends

ATP7A-related copper transport diseases—emerging concepts and future trends

Syndromic Choroideremia: Sublocalization of Phenotypes Associated with Martin-Probst Deafness Mental Retardation Syndrome

X-linked distal hereditary motor neuropathy maps to the DSMAX locus on chromosome Xq13.1-q21

Contact Info

Product

Resources

About