Ion-ing out the genetic basis of peripheral neuropathy associated with agenesis of the corpus callosum: mutations in a cation transporter cause ACCPN

2003 ◽  
Vol 63 (6) ◽  
pp. 456-457
Author(s):  
R S Devon
Keyword(s):  
Peripheral Neuropathy ◽  
Corpus Callosum ◽  
Genetic Basis

scholarly journals Fine mapping the candidate region for peripheral neuropathy with or without agenesis of the corpus callosum in the French Canadian population

2002 ◽  
Vol 10 (7) ◽  
pp. 406-412 ◽  
Author(s):  
Heidi C Howard ◽  
Marie-Pierre Dubé ◽  
Claude Prévost ◽  
Jean-Pierre Bouchard ◽  
Jean Mathieu ◽  
...  
Keyword(s):  
Peripheral Neuropathy ◽  
Corpus Callosum ◽  
Fine Mapping ◽  
Candidate Region ◽  
French Canadian ◽  
Canadian Population

scholarly journals A Novel Splice-Site Variant in SLC12A6 Causes Andermann Syndrome without Agenesis of the Corpus Callosum

2020 ◽  
Vol 09 (04) ◽  
pp. 293-295
Author(s):  
Naema Al Shibli ◽  
Almundher Al-Maawali ◽  
Alaa Elmanzalawy ◽  
Maryam Al-Nabhani ◽  
Roshan Koul ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Peripheral Neuropathy ◽  
Corpus Callosum ◽  
Splice Site ◽  
Brain Magnetic Resonance Imaging ◽  
Sensory Neuropathy ◽  
Mild Intellectual Disability ◽  
Whole Exome ◽  
Severe Motor ◽  
Demyelinating Peripheral Neuropathy

AbstractAndermann syndrome, otherwise known as agenesis of the corpus callosum with peripheral neuropathy (ACCPN), is an autosomal recessive motor and sensory neuropathy known to be associated with ACC and mild-to-moderate intellectual disability. We present a 7-year-old girl with infantile-onset hypotonia, mild intellectual disability, and severe motor and sensory demyelinating peripheral neuropathy. Brain magnetic resonance imaging showed intact corpus callosum. Whole exome sequencing showed a novel splice-site pathogenic variant in the SLC12A6 gene. We confirm that ACC is not a mandatory feature and suggest that the term ACCPN may be misleading.

scholarly journals Isolated involvement of corpus callosum in metronidazole-induced encephalopathy with concomitant peripheral neuropathy

Medicine ◽  
2020 ◽  
Vol 99 (20) ◽  
pp. e20198 ◽  
Author(s):  
Qing Peng ◽  
Qian You ◽  
Jing Zhang ◽  
Shui Liu
Keyword(s):  
Peripheral Neuropathy ◽  
Corpus Callosum

The K–Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum

2002 ◽  
Vol 32 (3) ◽  
pp. 384-392 ◽  
Author(s):  
Heidi C. Howard ◽  
David B. Mount ◽  
Daniel Rochefort ◽  
Nellie Byun ◽  
Nicolas Dupré ◽  
...  
Keyword(s):  
Peripheral Neuropathy ◽  
Corpus Callosum

scholarly journals Erratum: The K–Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum

2002 ◽  
Vol 32 (4) ◽  
pp. 681-681
Author(s):  
H C Howard ◽  
D B Mount ◽  
D Rochefort ◽  
N Byun ◽  
N Dupré ◽  
...  
Keyword(s):  
Peripheral Neuropathy ◽  
Corpus Callosum
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