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Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum

Synonyms: ACCPN, Agenesis of Corpus Callosum with Peripheral Neuropathy, Agenesis of Corpus Callosum with Polyneuropathy, Andermann Syndrome, HMSN/ACC

, MD, MSc, FRCP(C), , PhD, and , MD, PhD, FRCP(C).

Author Information

Initial Posting: ; Last Update: June 12, 2014.


Clinical characteristics.

Hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC), a neurodevelopmental and neurodegenerative disorder, is characterized by severe progressive sensorimotor neuropathy with resulting hypotonia, areflexia, and amyotrophy and variable degrees of dysgenesis of the corpus callosum. Mild-to-severe intellectual disability and "psychotic episodes" during adolescence are observed. Sensory modalities are moderately to severely affected beginning in infancy. The average age of onset of walking is 3.8 years; the average age of loss of walking is 13.8 years; the average age of death is 33 years.


HMSN/ACC is diagnosed by clinical features, electrophysiologic testing, and molecular genetic testing. Magnetic resonance imaging (MRI) of the brain shows complete callosal agenesis in 60% of individuals, partial callosal agenesis in 10%, and normal corpus callosum in 30%. SLC12A6 is the only gene in which mutation is currently known to cause HMSN/ACC.


Treatment of manifestations: Walking aids such as canes or walkers are required. Early developmental/educational intervention addresses cognitive delays. Depending on severity, individuals with HMSN/ACC usually require corrective surgery for scoliosis. Neuroleptics may be used to treat psychiatric manifestations, usually during adolescence.

Prevention of secondary complications: As the disease progresses, orthoses for upper and lower limbs and physiotherapy are needed to prevent contractures.

Surveillance: Monitor in the early teens for scoliosis and in the late teens for psychiatric manifestations.

Genetic counseling.

HMSN/ACC is inherited in an autosomal recessive manner. At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Once an at-risk sib is known to be unaffected, the risk of his/her being a carrier is 2/3. Heterozygotes (carriers) are asymptomatic. Carrier testing for at-risk family members and prenatal testing for pregnancies at increased risk are possible once the pathogenic variants have been identified in the family.


Hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC), a neurodevelopmental and neurodegenerative disorder, is characterized by the following [Dupré et al 2003]:

  • Severe progressive sensorimotor neuropathy with resulting hypotonia, areflexia, and amyotrophy
  • Variable degree of dysgenesis of the corpus callosum (Figure 1A and Figure 2A; Figure 1B and Figure 2B show comparable MRIs of normal brains). Magnetic resonance imaging shows complete callosal agenesis in 60% of individuals, partial callosal agenesis in 10%, and normal corpus callosum in 30%. Mild cortical or cerebellar atrophy may be observed in older persons.
Figure 1.

Figure 1.

Sagittal T1-weighted MRI A. Complete agenesis of the corpus callosum

Figure 2.

Figure 2.

Axial T1-weighted MRI A. Agenesis of the corpus callosum with parallelism of the ventricles

Electrophysiology. Sensorimotor neuropathy can be confirmed on electrophysiologic testing:

  • Sensory nerve action potentials cannot be recorded at the median, ulnar, or sural nerves even in children in their first year of life.
  • Compound motor action potentials (CMAP) usually show diminished amplitudes.
  • Nerve conduction velocities (NCVs) for the median, ulnar, and tibial nerves are variable.
  • Needle electromyography (EMG) may show mild signs of active denervation (e.g., fibrillation potentials).

Gene. SLC12A6 is the only gene in which pathogenic variants are known to cause HMSN/ACC [Howard et al 2002].

Table 1.

Molecular Genetic Testing Used in Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum (HMSN/ACC)

Gene 1Test MethodProportion of Probands with a Pathogenic Variant Detectable by This Method
SLC12A6Targeted analysis for pathogenic variants 2, 3100% 4
Sequence analysis 5, 6, 7~90%

See Table A. Genes and Databases for chromosome locus and protein. See Molecular Genetics for information on allelic variants.


For pathogenic variant c.2436delG in exon 18, found in almost all (>99%) individuals of French-Canadian descent.


Pathogenic variants included in a panel may vary by laboratory.


Individuals of French-Canadian origin


Sequence analysis detects variants that are benign, likely benign, of uncertain significance, likely pathogenic, or pathogenic. Pathogenic variants may include small intragenic deletions/insertions and missense, nonsense, and splice site variants; typically, exon or whole-gene deletions/duplications are not detected. For issues to consider in interpretation of sequence analysis results, click here.


See Table 2 for other common pathogenic variants in certain populations.


c.3031C>T can be considered a hot spot.

Testing Strategy

To establish the diagnosis in a proband

  • Probands should initially undergo:
    • Neurologic examination;
    • Brain magnetic resonance imaging to evaluate the corpus callosum;
    • Electrophysiologic studies to confirm the presence of a sensorimotor neuropathy.
  • For probands of French-Canadian origin who have the typical phenotype, the exon 18 c.2436delG pathogenic variant should be tested initially, followed by sequence analysis of the gene.
  • For probands of other ethnic origins, sequence analysis of the entire coding region should be performed.

Clinical Characteristics

Clinical Description

The main features of HMSN/ACC in the French-Canadian population were reported by Larbrisseau et al [1984] and Mathieu et al [1990]. In a study of 64 individuals between ages two and 34 years, the following neurologic findings were observed:

  • Reflexes invariably absent from infancy
  • Hypotonia invariably present in the first year of life
  • Progressive distal and proximal symmetric limb weakness
  • Muscle atrophy
  • Diffuse limb tremor (probably secondary to polyneuropathy)
  • Moderate to severe abnormalities of all sensory modalities from infancy

The following cranial nerve involvement was observed:

  • Eyelid ptosis (59%), symmetric or asymmetric
  • Facial weakness (34%), symmetric or asymmetric that may be associated with hemi-facial atrophy
  • Esotropia or exotropia, resulting from variable combinations of oculomotor nerve palsies
  • Gaze palsy (30%)
  • Horizontal nystagmus

Cognitive function of individuals with HMSN/ACC has been addressed in relatively few studies. Using the clinical classification of Taft to stratify cognitive function in 53 individuals, Mathieu et al [1990] found that 8% had normal intelligence, 49% had mild intellectual disability, 40% had moderate intellectual disability, and 4% had severe intellectual disability.

Mathieu et al [1990] reported that after age 15 years, 39% (25/64) developed "psychotic episodes" characterized by paranoid delusions, depressive states, visual hallucinations, auditory hallucinations, or "autistic-like" features.

Other findings:

  • Scoliosis (86%)
  • Early Achilles' tendon retraction (47%)
  • Seizures (17%)
  • Pulmonary restrictive syndrome

Dysmorphic features may include ocular hypertelorism (usually mild); brachycephaly (16%); high-arched palate (39%); overriding of the first toe (16%); and partial syndactyly of 2nd-3rd toes (8%).

The average age of onset of walking is 3.8 years, average age of loss of ability to walk is 13.8 years, average age of appearance of scoliosis is 10.4 years, and average age of death is 33 years.


  • Lumbar puncture usually reveals mild elevation of CSF proteins.
  • Sural nerve biopsy shows an almost total lack of large myelinated fibers, signs of axonal loss (ovoids of Wallerian degeneration), and some enlarged axons that on electron microscopy show decreased density of neurofilaments. Isolated fibers may have disproportionately thin myelin sheaths, suggesting that the axoplasm is swollen. Electron microscopy may show decreased packing density of neurofilaments, without signs of their degradation.
    Note: Sural nerve biopsy is unnecessary to confirm the diagnosis, now that molecular genetic testing is possible.
  • Muscle biopsy shows nonspecific signs of chronic denervation atrophy.
  • Autopsy examination. The hallmark is swollen axons in cranial nerve samples (especially cranial nerves 3 and 7), as well as in the dorsal and ventral nerve roots. Swollen axons can also be scattered in the white matter. The brain shows either no ACC, partial ACC, or complete ACC with preservation of Probst bundle.

Genotype-Phenotype Correlations

In the French-Canadian population, the exon 18 pathogenic variant is present in almost all affected individuals. A single individual was identified as a compound heterozygote for the exon 18 pathogenic variant and the exon 11 pathogenic variant, and this individual's phenotype did not differ significantly from that of the other individuals of French-Canadian descent.

Pathogenic variants in SLC12A6 have been confirmed in only two non-French-Canadian families whose phenotype was similar to that in individuals of French-Canadian origin [Dupré et al 2003]:

  • A brother (age 4 years) and his sister (age 5 years) from the region of Verona, Italy, born to unrelated unaffected parents, had developmental delay, a sensorimotor axonal polyneuropathy, and callosal agenesis. Both have the SLC12A6 pathogenic variant c.2023C>T, in exon 15.
  • Two boys of Turkish origin, born to unaffected parents who are second-degree cousins, had developmental delay, areflexia, hypotonia, a sensorimotor polyneuropathy, and complete callosal agenesis. Both have the SLC12A6 nonsense variant c.3031C>T, in exon 22.


In the French-Canadian population of the Saguenay and Lac-St-Jean regions of Quebec, Canada, the overall incidence of HMSN/ACC is 1:2117 live births; the carrier rate is 1:23 inhabitants.

Otherwise, HMSN/ACC is extremely rare worldwide. Only two pairs of sibs (of Italian and Turkish origin) have been reported to have molecularly confirmed HMSN/ACC.

A Tanzanian family has been described (without genetic testing) in which one of three affected sibs had only ACC [Deleu et al 1997].

Differential Diagnosis

Severe early-onset autosomal recessive hereditary neuropathies such as those classified as Charcot-Marie-Tooth hereditary neuropathy type 4 (CMT4; see CMT Overview) may be considered as a differential diagnosis.

Infantile neuroaxonal dystrophy (INAD), or Seitelberger disease, comprises a classic form and an atypical form. Classic disease usually begins between ages six months and three years with developmental regression, hypotonia, progressive psychomotor delay, and progressive spastic tetraparesis. Strabismus, nystagmus, and optic atrophy are common. Disease progression is rapid. Many affected children never learn to walk or lose this ability shortly after attaining it. Severe spasticity, progressive cognitive decline, and visual impairment typically result in death during the first decade. The atypical form is more varied than the classic form. In general, onset is in early childhood, but can be as late as the late teens. The presenting signs may be similar to the classic form with gait instability or ataxia, but may be speech delay and autistic features, which may remain as the only evidence of disease for a year or more. The course is fairly stable during early childhood and resembles static encephalopathy, but is followed by neurologic deterioration between ages seven and 12 years. PLA2G6 is the only gene known to be associated with classic and atypical NAD. Sequence analysis detects pathogenic variants in about 85% of affected individuals. Inheritance is autosomal recessive.

Arylsulfatase A deficiency (metachromatic leukodystrophy or MLD) is characterized by three clinical subtypes: late-infantile MLD (50%-60% of cases); juvenile MLD (20%-30% of cases); and adult MLD (15%-20% of cases). Infantile- and early-juvenile-onset MLD are included in the differential diagnosis of HMSN/ACC because children present with CNS and/or peripheral nervous system symptoms. Age of onset within a family is usually similar. All individuals eventually lose motor and intellectual functions. The disease course may be from three to ten or more years in the late infantile-onset form and up to 20 years or more in the juvenile- and adult-onset forms. Death most commonly results from pneumonia or other infection. The diagnosis is suggested by arylsulfatase A enzyme activity in leukocytes that is less than 10% of normal controls and is confirmed using one or more of the following additional tests: molecular genetic testing of ARSA; urinary excretion of sulfatides; and/or finding of metachromatic lipid deposits in nervous system tissue. Inheritance is autosomal recessive.

Giant axonal neuropathy (GAN) is an early-onset fatal neurodegenerative disorder. GAN starts as severe peripheral motor and sensory neuropathy during infancy and evolves into central nervous system impairment (intellectual disability, seizures, cerebellar signs, and pyramidal tract signs). Most individuals become wheelchair dependent in the second decade of life and eventually bedridden with severe polyneuropathy, ataxia, and dementia. Death usually occurs in the third decade. The diagnosis of GAN is established by clinical findings including nerve conduction velocity (NCV), brain MRI, and peripheral nerve biopsy. The pathologic hallmark is so-called giant axons associated with massive disorganization and aggregation of neurofilaments. GAN is caused by pathogenic variants in GAN, encoding the protein gigaxonin. GAN is the only gene in which mutation is currently known to cause GAN. Inheritance is autosomal recessive.

Spastic paraplegia 11 (SPG11) is characterized by progressive spasticity and weakness of the lower limbs frequently associated with the following: mild intellectual disability with learning difficulties in childhood and/or progressive cognitive decline; peripheral neuropathy; pseudobulbar involvement; and increased reflexes in the upper limbs. Less frequent findings include: cerebellar signs (ataxia, nystagmus, saccadic pursuit); retinal degeneration; pes cavus; scoliosis; and parkinsonism. Onset occurs mainly during infancy or adolescence (range: age 1-31 years). Most affected individuals become wheelchair bound one or two decades after disease onset. SPG11 is the only gene in which pathogenic variants are known to cause SPG11. SPG11 is inherited in an autosomal recessive manner.


Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC), the following evaluations are recommended:

  • Developmental assessment
  • Physical therapy assessment to determine strength and self-help skills
  • Consultation with a clinical geneticist and/or genetic counselor

Treatment of Manifestations

During the first few years of life, most children with HMSN/ACC are able to achieve walking independently, but require walking aids such as canes or walkers.

Early developmental/educational intervention is appropriate for cognitive delays.

Depending on its degree of severity, scoliosis usually requires surgical correction.

Low-dose neuroleptics may be useful for psychiatric manifestations. Referral for psychiatric evaluation is appropriate.

Prevention of Primary Manifestations

No specific treatment is available for the sensorimotor neuropathy.

Care is best provided by a multidisciplinary team that comprises a pediatrician or pediatric neurologist, an orthopedist, a physiotherapist, and an occupational therapist.

Prevention of Secondary Complications

As the disease progresses in childhood various orthoses for the upper and lower limbs are needed.

Regular physiotherapy is required to prevent contractures of the hands and feet.


The following are appropriate:

  • Orthopedic follow up, especially during the early teens when significant scoliosis starts to appear
  • Monitoring in the late teens for psychiatric manifestations including psychosis and paranoid delusions

Evaluation of Relatives at Risk

See Genetic Counseling for issues related to testing of at-risk relatives for genetic counseling purposes.

Therapies Under Investigation

Search in the US and in Europe for information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.

Genetic Counseling

Genetic counseling is the process of providing individuals and families with information on the nature, inheritance, and implications of genetic disorders to help them make informed medical and personal decisions. The following section deals with genetic risk assessment and the use of family history and genetic testing to clarify genetic status for family members. This section is not meant to address all personal, cultural, or ethical issues that individuals may face or to substitute for consultation with a genetics professional. —ED.

Mode of Inheritance

Hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC) is inherited in an autosomal recessive manner.

Risk to Family Members

Parents of a proband

  • The parents of an affected child are obligate heterozygotes (i.e., carriers of one mutated SLC12A6 allele).
  • Heterozygotes (carriers) are asymptomatic.

Sibs of a proband

  • At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier.
  • Once an at-risk sib is known to be unaffected, the risk of his/her being a carrier is 2/3.
  • Heterozygotes (carriers) are asymptomatic.

Offspring of a proband. Individuals with HMSN/ACC do not reproduce.

Other family members of a proband. Each sib of the proband's parents is at a 50% risk of being a carrier.

Carrier (Heterozygote) Detection

Carrier testing for at-risk relatives requires prior identification of the pathogenic variants in the family.

Related Genetic Counseling Issues

Family planning

  • The optimal time for determination of genetic risk, clarification of carrier status, and discussion of the availability of prenatal testing is before pregnancy.
  • It is appropriate to offer genetic counseling (including discussion of potential risks to offspring and reproductive options) to young adults who are carriers or are at risk of being carriers.

DNA banking is the storage of DNA (typically extracted from white blood cells) for possible future use. Because it is likely that testing methodology and our understanding of genes, allelic variants, and diseases will improve in the future, consideration should be given to banking DNA of affected individuals.

Prenatal Testing and Preimplantation Genetic Diagnosis

Once the SLC12A6 pathogenic variants have been identified in an affected family member, prenatal testing for a pregnancy at increased risk and preimplantation genetic diagnosis are possible.


GeneReviews staff has selected the following disease-specific and/or umbrella support organizations and/or registries for the benefit of individuals with this disorder and their families. GeneReviews is not responsible for the information provided by other organizations. For information on selection criteria, click here.

  • Muscular Dystrophy Association - Canada
    2345 Yonge Street
    Suite 900
    Toronto M4P 2E5
    Phone: 866-687-2538 (toll-free)
    Fax: 416-488-7523
  • National Organization of Disorders of the Corpus Callosum (NODCC)
    18032-C Lemon Drive
    PMB 363
    Yorba Linda CA 92886
    Phone: 714-747-0063
    Fax: 714-693-0808
  • Hereditary Neuropathy Foundation, Inc.
    432 Park Avenue South
    4th Floor
    New York NY 10016
    Phone: 855-435-7268 (toll-free); 212-722-8396
    Fax: 917-591-2758
  • National Institute of Neurological Disorders and Stroke (NINDS)
    PO Box 5801
    Bethesda MD 20824
    Phone: 800-352-9424 (toll-free); 301-496-5751; 301-468-5981 (TTY)

Molecular Genetics

Information in the Molecular Genetics and OMIM tables may differ from that elsewhere in the GeneReview: tables may contain more recent information. —ED.

Table A.

Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum: Genes and Databases

Data are compiled from the following standard references: gene from HGNC; chromosome locus from OMIM; protein from UniProt. For a description of databases (Locus Specific, HGMD, ClinVar) to which links are provided, click here.

Table B.

OMIM Entries for Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum (View All in OMIM)


Gene structure. SLC12A6 has a total of 26 coding exons, as well as two 5' noncoding exons that are not present in all transcripts. The two major transcripts of SLC12A6 are referred to as KCC3a and KCC3b, which utilize different first coding exons. KCC3a is composed of exon 1a plus exons 2-25, while KCC3b has exon 1b plus exons 2-25. A minimum of four other transcripts differ at the N-terminus because of alternative first exons and/or alternative splicing [Mercado et al 2005]. The longest transcript, NM_133647.1, encodes the longest protein isoform NP_598408.1. For a detailed summary of gene and protein information, see Table A, Gene.

Pathogenic variants. See Table 2.

Table 2.

Selected SLC12A6 Pathogenic Variants

EthnicityDNA Nucleotide Change
(Alias 1)
Predicted Protein ChangeReference Sequences
French-Canadianc.1584_1585delCTinsG 2p.Phe529LeufsTer4
Turkc.3031C>T 3p.Arg1011Ter

Note on variant classification: Variants listed in the table have been provided by the authors. GeneReviews staff have not independently verified the classification of variants.

Note on nomenclature: GeneReviews follows the standard naming conventions of the Human Genome Variation Society (varnomen​ See Quick Reference for an explanation of nomenclature.


Variant designation that does not conform to current naming conventions


An exon 11 pathogenic variant found in a single individual of French-Canadian origin [Howard et al 2002]


c.3031C>T can be considered a hot spot since it can occur on different haplotypes (Dutch-Afrikaner and Turkish) [Dupré et al 2003, Uyanik et al 2006, Salin-Cantegrel et al 2007].

Normal gene product. SLC12A6 encodes solute carrier family 12 member 6 (KCC3) whose protein structure includes 12 putative membrane-spanning helices with large NH2 and COOH termini, a large extracellular loop between transmembrane domains seven and eight with five potential sites for N-linked glycosylation, two consensus cAMP-dependant protein kinase phosphorylation sites, and four consensus protein kinase C phosphorylation sites in the COOH terminus. KCC3 could be involved either in volume regulation, in transepithelial transport of salt and water, or in regulation of K and Cl concentrations in cells and in the interstitial space. KCC3 may be involved in ion homeostasis (Cl- equilibrium) with a possible role in cell proliferation via ion-sensitive kinases [Howard et al 2002].

Abnormal gene product. The truncated protein is appropriately glycosylated and expressed at the cellular membrane, but it is nonfunctional [Howard et al 2002]. Lack of KCC3 in the developing nervous system may increase the susceptibility of damaging the fibers migrating across the midline close to the subarachnoid space to form the corpus callosum. As this structure forms during embryogenesis, absence of KCC3 must have phenotypic effects early during neuronal development. The findings in the peripheral nervous system, on the other hand, are progressive and do not suggest any migratory abnormality. The site of maximum damage in the peripheral nervous system appears to be in the nerve roots, where nerve fibers are bathed in cerebrospinal fluid (CSF). This is where the great majority of swollen axons are encountered, along with aberrant regeneration and Schwann cell proliferation [Dupré et al 2003].

KCC3 knockout mice have reduced seizure threshold, deafness, and degeneration in the central and peripheral nervous systems [Boettger et al 2003].


Literature Cited

  • Boettger T, Rust MB, Maier H, Seidenbecher T, Schweizer M, Keating DJ, Faulhaber J, Ehmke H, Pfeffer C, Scheel O, Lemcke B, Horst J, Leuwer R, Pape HC, Völkl H, Hübner CA, Jentsch TJ. Loss of K-Cl co-transporter KCC3 causes deafness, neurodegeneration and reduced seizure threshold. EMBO J. 2003;22:5422–34. [PMC free article: PMC213773] [PubMed: 14532115]
  • Deleu D, Bamanikar SA, Muirhead D, Louon A. Familial progressive sensorimotor neuropathy with agenesis of the corpus callosum (Andermann syndrome): a clinical, neuroradiological and histopathological study. Eur Neurol. 1997;37:104–9. [PubMed: 9058066]
  • Dupré N, Howard HC, Mathieu J, Karpati G, Vanasse M, Bouchard JP, Carpenter S, Rouleau GA. Hereditary motor and sensory neuropathy with agenesis of the corpus callosum. Ann Neurol. 2003;54:9–18. [PubMed: 12838516]
  • 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 JP, Mathieu J, Delpire E, Rouleau GA. The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum. Nat Genet. 2002;32:384–92. [PubMed: 12368912]
  • Larbrisseau A, Vanasse M, Brochu P, Jasmin G. The Andermann syndrome: agenesis of the corpus callosum associated with mental retardation and progressive sensorimotor neuronopathy. Can J Neurol Sci. 1984;11:257–61. [PubMed: 6329500]
  • Mathieu J, Bédard F, Prévost C, Langevin P. Can J Neurol Sci. 1990;17:103–8. [Motor and sensory neuropathies with or without agenesis of the corpus callosum: a radiological study of 64 cases.] [PubMed: 2357646]
  • Mercado A, Vázquez N, Song L, Cortés R, Enck AH, Welch R, Delpire E, Gamba G, Mount DB. NH2-terminal heterogeneity in the KCC3 K+-Cl- cotransporter. Am J Physiol Renal Physiol. 2005;289:F1246–61. [PubMed: 16048901]
  • Salin-Cantegrel A, Rivière JB, Dupré N, Charron FM, Shekarabi M, Karéméra L, Gaspar C, Horst J, Tekin M, Deda G, Krause A, Lippert MM, Willemsen MA, Jarrar R, Lapointe JY, Rouleau GA. Distal truncation of KCC3 in non-French Canadian HMSN/ACC families. Neurology. 2007;69:1350–5. [PubMed: 17893295]
  • Uyanik G, Elcioglu N, Penzien J, Gross C, Yilmaz Y, Olmez A, Demir E, Wahl D, Scheglmann K, Winner B, Bogdahn U, Topaloglu H, Hehr U, Winkler J. Novel truncating and missense mutations of the KCC3 gene associated with Andermann syndrome. Neurology. 2006;66:1044–8. [PubMed: 16606917]

Suggested Reading

  • Dupré N, Mathieu J, Chicoine L, Leveille D. Neuropathie sensitivomotrice héréditaire avec ou sans agénésie du corps calleux. In: Vanasse M, Pare H, Brousseau Y, D'Arcy S, eds. Les Maladies Neuromusculaires chez l'Enfant et l'Adolescent. Montreal, Quebec: Editions de l'Hôpital Ste-Justine (CHU mère-enfant); 2004:209-18.

Chapter Notes


This work was supported by La Fondation des Jumelles Coudé and the Canadian Institute of Health Research.

Additionally, the authors would like to acknowledge the very significant contribution of Dr Jean Mathieu and Dr Jean-Pierre Bouchard to the understanding of HMSN/ACC, which has been the cornerstone of its phenotypic and genotypic characterization in the last decade.

Revision History

  • 12 June 2014 (me) Comprehensive update posted live
  • 18 June 2009 (me) Comprehensive update posted live
  • 2 February 2006 (me) Review posted live
  • 2 September 2005 (gr) Original submission
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