65:
316:, as a result of axonal damage in peripheral nerves. Changes in the axons are more severe in the PNS than CNS, and under the electron microscope, some axons look necrotic, by virtue of containing mitochondrial flocculent densities and other irreversible changes. The lack of innervation of the body musculature during development gives rise to small body weights, often below 40 kg (88 lb), remarkable in view of the preserved brain weights.
37:
601:
Andermann, E; Andermann, F; Joubert, D; Melançon, D; Karpati, G; Carpenter, S (1975). "Three familial midline malformation syndromes of the central nervous system: agenesis of the corpus callosum and anterior horn-cell disease; agenesis of cerebellar vermis; and atrophy of the cerebellar vermis".
288:
can be found running anteroposterior rather than crossing the midline. The axonal damage due to the channel deficiency can cause a reactive axonal overgrowth leading to small, tumor-like growths, or tumorlets, called axonomas, or balls of aberrant axons attempting regrowth. Damaged axons can also
629:
Howard, HC; Mount, DB; Rochefort, D; Byun, N; Dupré, N; Lu, J; Fan, X; Song, L; Rivière, JB; Prévost, C; Horst, J; Simonati, A; Lemcke, B; Welch, R; England, R; Zhan, FQ; Mercado, A; Siesser, WB; George, AL Jr; McDonald, MP; Bouchard, J-P; Mathieu, J; Delpire, E; Rouleau, GA (2002). "The K-Cl
1314:
871:"Loss of neuronal potassium/chloride cotransporter 3 (KCC3) is responsible for the degenerative phenotype in a conditional mouse model of hereditary motor and sensory neuropathy associated with agenesis of the corpus callosum"
1135:
Deleu, D; Bamanikar, SA; Muirhead, D; Louon, A (1997). "Familial progressive sensorimotor neuropathy with agenesis of the corpus callosum (Andermann syndrome): a clinical, neuroradiological and histopathological study".
1171:
Pacheva, I; Todorov, T; Halil, Z; Yordanova, R; Todorova, A; Geneva, I; Galabova, F; Ivanov, I (2019). "First case of Roma ethnic origin with
Andermann syndrome: A novel frameshift mutation in exon 20 of SLC12A6 gene".
868:
Shekarabi, M; Moldrich, RX; Rasheed, S; Salin-Cantegrel, A; Laganière, J; Rochefort, D; Hince, P; Huot, K; Gaudet, R; Kurniawan, N; Sotocinal, SG; Ritchie, J; Dion, PA; Mogil, JS; Richards, LJ; Rouleau, GA (2012).
665:
Uyanik, G.; Elcioglu, N.; Penzien, J.; Gross, C.; Yilmaz, Y.; Olmez, A.; Demir, E.; Wahl, D.; Scheglmann, K. (2006). "Novel truncating and missense mutations of the KCC3 gene associated with
Andermann syndrome".
717:
Garneau, AP; Marcoux, AA; Frenette-Cotton, R; Mac-Way, F; Lavoie, JL; Isenring, P (2017). "Molecular insights into the normal operation, regulation, and multisystemic roles of K+-Cl- cotransporter 3 (KCC3)".
1108:
Lesca, G; Cournu-Rebeix, I; Azoulay-Cayla, A; Lyon-Caen, Q; Barois, A; Dulac, O; Fontaine, B (2001). "Andermann syndrome in an
Algerian family: suggestion of phenotype and genetic homogeneity".
833:
Larbrisseau, A; Vanasse, M; Brochu, P; Jasmin, G (1984). "The
Andermann syndrome: agenesis of the corpus callosum associated with mental retardation and progressive sensorimotor neuronopathy".
763:
Shekarabi, M; Salin-Cantegrel, A; Laganière, J; Gaudet, R; Dion, P; Rouleau, GA (2011). "Cellular expression of the K+-Cl- cotransporter KCC3 in the central nervous system of mouse".
582:
Andermann, E; Andermann, F; Joubert, M (1972). "Familial agenesis of the corpus callosum with anterior horn cell disease. A syndrome of mental retardation, areflexia and paraplegia".
559:. In Pagon, Roberta A.; Adam, Margaret P.; Ardinger, Holly H.; Wallace, Stephanie E.; Amemiya, Anne; Bean, Lora J.H.; Bird, Thomas D.; Ledbetter, Nikki; Mefford, Heather C. (eds.).
297:. These spheroids can occur throughout the cerebral hemispheres, explaining the psychotic symptoms by disconnection of the brain from itself by axonal functional disruption.
798:
Filteau, MJ; Pourcher, E; Bouchard, RH; Baruch, P; Mathieu, J; Bédard, F; Simard, N; Vincent, P (1991). "Corpus callosum agenesis and psychosis in
Andermann syndrome".
241:
Autopsy examination of eight cases has shown both developmental and degenerative neuropathologic features in this disease, consistent with clinical duality as both a
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534:
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Van Poucke, M; Stee, K; Sonck, L; Stock, E; Bosseler, S; Van Dorpe, J; Van
Nieuwerburgh, F; Deforce, D; Peelman, LJ; Van Ham, L; Bhatti, SFM; Broeckx, BJG (2019).
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Sung, JH (1987). "Tangled masses of central axons (central axonomas) in the brain stem: anatomical evidence for the regenerative growth of human central axons".
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Demir, E; Irobi, J; Erdem, S; Demirci, M; Tan, E; Timmerman, V; De Jonghe, P; Topaloglu, H (2003). "Andermann syndrome in a
Turkish patient".
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394:, where it has a frequency of about one in 2100 in live births, and a carrier rate of one in 23. This genetic disease, along with the
345:
Magnetic resonance imaging of the brain (revealing in 60% of the patients callosal agenesis and in 10% partial callosal agenesis)
308:(CNS) or PNS, this disease affects both, but the changes in the PNS lead to death. This occurs by axonal disease paralyzing the
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Løseth, S; Høyer, H; Le, K-M; Delpire, E; Kinge, E; Lande, A; Hilmarsen, HT; Fagerheim, T; Nilssen, Ø; Braathen, GJ (2023).
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The prevalence rate has been estimated to be less than one per 1,000,000 worldwide, and is much more common in the
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cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum".
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psychiatric problems including paranoid delusions, depression, hallucinations and autistic-like behavior
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The prognosis is poor. Patients are usually wheelchair bound by their 20s and die by their 30s.
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Auer RN, Laganière JL, Robitaille YO, Richardson J, Dion PA, Rouleau GA, Shekarabi M (2016).
450:"Andermann syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program"
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233:. Dogs show a different phenotype from humans, with predominantly spinocerebellar ataxia.
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mutation, has also been described in Turkey, Algeria,Tanzania, Bulgaria and Norway.
304:(PNS), the disease is more severe. While most nervous system diseases affect either
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KCC3 axonopathy, agenesis of corpus callosum with neuronopathy, Charlevoix disease
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1209:"Late-onset sensory-motor axonal neuropathy, a novel SLC12A6-related phenotype"
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1052:"Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum"
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Currently, no cure is known, but some symptoms may be treated, such as
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477:"AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY; ACCPN"
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accounts for the symptoms and signs arising from brain and nerves.
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Dupré, Nicolas; Howard, Heidi C.; Rouleau, Guy A. (1993-01-01).
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214:. The normal presence of these channels in axons of both the
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This condition is inherited in an autosomal recessive manner.
511:"Orphanet: Corpus callosum agenesis neuronopathy syndrome"
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is almost always absent, but occasionally hypoplastic. A
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of the same name, that functions as a co-transporter of
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Transactions of the
American Neurological Association
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and involves nonsense and missense mutations of the
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563:. Seattle (WA): University of Washington, Seattle.
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mild to severe intellectual and developmental delay
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268:. Another developmental feature is seen in the
79:agenesis of corpus callosum with neuronopathy
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324:A typical diagnostic workup includes:
604:Birth Defects Original Article Series
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134:Symptoms and signs involve both the
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924:European Journal of Human Genetics
680:10.1212/01.wnl.0000204181.31175.8b
115:It was first described in 1972 by
93:among other names, is a very rare
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1029:10.1097/00005072-198703000-00007
100:that damages the nerves used to
1050:Dupré, Nicolas (12 June 2014).
110:agenesis of the corpus callosum
887:10.1523/JNEUROSCI.3679-11.2012
777:10.1016/j.brainres.2010.12.010
358:for the psychiatric problems.
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289:show a sign of inhibition of
108:and is often associated with
1087:10.1177/08830738030180011901
183:The inheritance pattern is
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1075:Journal of Child Neurology
732:10.1152/ajpcell.00106.2017
331:Electrophysiologic testing
140:peripheral nervous systems
993:10.1038/modpathol.2016.90
936:10.1038/s41431-019-0432-3
847:10.1017/s0317167100045509
454:rarediseases.info.nih.gov
302:peripheral nervous system
220:peripheral nervous system
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193:gene which codes for an
875:Journal of Neuroscience
425:Genetics Home Reference
306:central nervous system
254:central nervous system
216:central nervous system
1225:10.1093/brain/awac488
800:Archives of Neurology
225:The disease has been
142:starting in infancy:
1186:10.1002/ajmg.a.61110
421:"Andermann syndrome"
272:, which varies from
266:corticospinal tracts
161:variable degrees of
106:related to sensation
314:respiratory muscles
282:anterior commissure
256:, accompanying the
185:autosomal recessive
1342:External resources
1288:Andermann syndrome
1279:Andermann syndrome
1270:Andermann syndrome
1138:European Neurology
1110:Revue Neurologique
378:population of the
243:neurodevelopmental
130:Symptoms and signs
87:Charlevoix disease
75:Andermann syndrome
22:Andermann syndrome
1378:Genetic syndromes
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328:Clinical features
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1234:10037/28541
561:GeneReviews
386:regions of
384:Lac-St-Jean
278:hypoplastic
27:Other names
1372:Categories
741:1866/33307
590:: 242-244.
520:2017-01-19
486:2017-01-19
459:2017-01-19
431:19 January
404:References
370:Prevalence
334:Molecular
293:, forming
262:hypoplasia
249:disorder.
163:dysgenesis
157:amyotrophy
1283:Orpha.net
771:: 15–26.
688:1526-632X
668:Neurology
362:Prognosis
350:Treatment
320:Diagnosis
258:hypotonia
207:ions and
205:potassium
152:areflexia
147:hypotonia
117:Frederick
59:neurology
50:Specialty
1351:Orphanet
1253:36542484
1194:30868738
1122:11885521
1095:12661946
1058:18 April
1002:27230413
954:31160700
905:22423107
785:21147077
750:28814402
696:16606917
652:12368912
569:20301546
529:cite web
380:Saguenay
227:modelled
209:chloride
179:Genetics
1322:: G60.0
1244:9976957
1158:9058066
1037:3819774
945:6777613
896:6703451
855:6329500
820:1668979
616:1227532
397:SLC12A6
340:SLC12A6
300:In the
264:of the
252:In the
201:protein
190:SLC12A6
165:of the
136:central
1332:218000
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