Paula and Bobby
Parents of Lillie
Agenesis of the Corpus Callosum with Peripheral Neuropathy; ACCPN
What is Agenesis of the Corpus Callosum with Peripheral Neuropathy; ACCPN?
Agenesis of the Corpus Callosum with Peripheral Neuropathy; ACCPN is a rare disease. It is also known as ACCPN Andermann Syndrome Charlevoix Disease Corpus Callosum, Agenesis Of, With Neuronopathy Hered. motor and sensory neuropathy - agenesis of corpus callosum Polyneuropathy, Sensorimotor, With Or Without Agenesis Of The Corpus Callosum.
Most of the patients with this condition seem at present to be French-Canadians from county Charlevoix. They present with psychomotor retardation and a flaccid paresis of all limbs, but especially the lower limbs. They can have bilateral ptosis, strabismus, a small jaw and facial asymmetry, and then proceed to develop a kyphoscoliosis. A CT scan will show an agenesis of the corpus callosum and electrophysiologically there is evidence of anterior horn cell disease. In addition the sensory evoked potentials are absent, indicating that there is further pathology, perhaps in the dorsal root ganglia. A muscle biopsy shows denervation and a sural nerve biopsy shows an almost complete absence of large myelinated fibres.
Casaubon et al., (1996) mapped the gene to 15q13-q15. Howard et al., (2002) demonstrated mutations in the KCC3 gene, which codes for a K-CL cotransporter. Demir et al., (2003) mapped a Turkish patient to this locus.
Devon (2003) provides an excellent review of the molecular situation and a full and excellent review is given by Dupre et al., (2003). A Turkish boy with a mutation was reported by Degerliyurt et al., (2013)
* This information is courtesy of the L M D.
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What gene changes cause Agenesis of the Corpus Callosum with Peripheral Neuropathy; ACCPN?
The syndrome is inherited in the following inheritance pattern/s:
Autosomal Recessive - Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms but have a 25% chance of passing the copies of the gene mutations onto each of their children.
In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation that occurs during the reproductive process.
OMIM Number - 218000 (please check the OMIM page for updated information)
The syndrome can be caused by mutations in the following gene/s location/s:
SLC12A6 - 15q14
What are the main symptoms of Agenesis of the Corpus Callosum with Peripheral Neuropathy; ACCPN?
The typical symptoms of the syndrome are:
Global developmental delay, Cognitive impairment, Hypertelorism, High palate, Increased CSF protein, Hypoplasia of the maxilla, Generalized hypotonia, Hemiplegia/hemiparesis, Polyneuropathy, Nystagmus, Onion bulb formation, Autosomal recessive inheritance, Seizure, Psychosis, Skeletal muscle atrophy, Areflexia, Aplasia/Hypoplasia of the corpus callosum, Aqueductal stenosis, Peripheral axonal neuropathy, Axonal degeneration/regeneration, Abnormality of retinal pigmentation, Wide nasal bridge, Brachycephaly, Limb muscle weakness, Macrotia, Low anterior hairline, Tapered finger, Long face, 2-3 toe syndactyly, Intellectual disability, Myopia, Short nose, Neonatal hypotonia, Narrow forehead, Sensory neuropathy, Motor polyneuropathy, Limb tremor, Microcephaly, Strabismus, Respiratory tract infection, Restrictive deficit on pulmonary function testing, Progressive, Scoliosis, Ptosis, Agenesis of corpus callosum, EMG: chronic denervation signs, Facial diplegia, Facial asymmetry, EEG abnormality, Decreased sensory nerv
How does someone get tested for Agenesis of the Corpus Callosum with Peripheral Neuropathy; ACCPN?
The initial testing for Agenesis of the Corpus Callosum with Peripheral Neuropathy; ACCPN can begin with facial genetic analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the type of genetic testing needed. A consultation with a genetic counselor and then a geneticist will follow.
Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.
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