|
Peripheral motor neuropathy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Only two ATP7A mutations were previously reported as causing, a pure axonal distal motor neuropathy (dHMN-SMAX3).
|
31558336 |
2019 |
|
Peripheral motor neuropathy
|
0.100 |
Biomarker
|
disease |
BEFREE |
Mutations in a second, closely related copper-transporting ATPase, ATP7A, cause a spectrum of copper deficiency disorders that include Menkes disease, occipital horn syndrome, and ATP7A-related distal motor neuropathy.
|
29325617 |
2018 |
|
Peripheral motor neuropathy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the ATP7A gene may lead to infantile-onset cerebral degeneration (Menkes disease); occipital horn syndrome (OHS), a related but much milder illness; or an adult-onset isolated distal motor neuropathy.
|
29599289 |
2018 |
|
Peripheral motor neuropathy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We have generated an Atp7a conditional knock in mouse model of dHMNX expressing Atp7a(T985I), the orthologue of the human ATP7A(T994I) identified in dHMNX patients.
|
27293072 |
2016 |
|
Peripheral motor neuropathy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in ATP7A lead to at least three allelic disorders: Menkes disease (MD), Occipital horn syndrome and X-linked distal motor neuropathy.
|
25172213 |
2015 |
|
Peripheral motor neuropathy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Recently, two unique ATP7A missense mutations, T994I and P1386S, were shown to cause isolated adult-onset distal motor neuropathy.
|
24754450 |
2014 |
|
Peripheral motor neuropathy
|
0.100 |
Biomarker
|
disease |
BEFREE |
Mutations in the gene encoding this multitasking molecule are now implicated in at least two other distinctive phenotypes: occipital horn syndrome and ATP7A-related isolated distal motor neuropathy.
|
24735419 |
2014 |
|
Peripheral motor neuropathy
|
0.100 |
Biomarker
|
disease |
BEFREE |
ATP7A-related distal motor neuropathy presents even later, often not until adolescence or early adulthood, and involves a neurological phenotype that resembles Charcot-Marie-Tooth disease, type 2.
|
23622398 |
2013 |
|
Peripheral motor neuropathy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We investigated two ATP7A motor neuropathy mutations (T994I, P1386S) previously associated with abnormal intracellular trafficking.
|
22210628 |
2012 |
|
Peripheral motor neuropathy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Based on review of X-inactivation patterns in female carriers of other X-linked recessive diseases, our findings imply that substantial expression of a mutant ATP7A at the expense of the normal allele could be associated with neurologic symptoms in female carriers of Menkes disease and its allelic variants, occipital horn syndrome, and ATP7A-related distal motor neuropathy.
|
20497190 |
2011 |
|
Peripheral motor neuropathy
|
0.100 |
Biomarker
|
disease |
BEFREE |
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.
|
21221114 |
2011 |
|
Peripheral motor neuropathy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Although ATP7A mutations are typically associated with severe Menkes disease or its milder allelic variant, occipital horn syndrome, we demonstrate here that certain missense mutations at this locus can cause a syndrome restricted to progressive distal motor neuropathy without overt signs of systemic copper deficiency.
|
20170900 |
2010 |