Hereditary motor and sensory neuropathy type 6

A rare axonal hereditary motor and sensoy neuropathy disease characterized by progressive, peripheral, axonal sensorimotor neuropathy (of variable severity), affecting predominantly the distal lower limbs, associated with progressive, variably severe, optic atrophy, which frequently leads to visual loss. Patients typically present distal limb muscle weakness and atrophy, hypo/areflexia, foot deformities, poor visual acuity (often with a central scotoma), nystagmus, and reduced peripheral and nocturnal vision. Additional reported manifestations include sensorineural hearing loss, major joint contractures, anosmia, scoliosis/lumbar hyperlordosis, cognitive impairment and vocal cord paresis.



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Total: 8 (papers)

   


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(17.5%)		 25995486
 Homozygous p.V116* mutation in C12orf65 results in Leigh syndrome.
Imagawa E, Fattal-Valevski A, Eyal O, Miyatake S, Saada A, Nakashima M, Tsurusaki Y, Saitsu H, Miyake N, Matsumoto N.
J Neurol Neurosurg Psychiatry. 2016;87(2):212-6.
Ophthalmoplegia Spastic paraparesis
C12orf65
c|DEL|346|G;RS#:398122972 p|SUB|V|116|*
Age of Onset Asians Brain Charcot-Marie-Tooth Disease Child Codon, Nonsense Exome Females Homo sapiens Jews Leigh Disease Magnetic Resonance Imaging Male Mitochondrial Proteins Peptide Termination Factors Sequence Analysis, DNA
1
(17.5%)		 18946002
 Mutated mitofusin 2 presents with intrafamilial variability and brain mitochondrial dysfunction.
Del Bo R, Moggio M, Rango M, Bonato S, D'Angelo MG, Ghezzi S, Airoldi G, Bassi MT, Guglieri M, Napoli L, Lamperti C, Corti S, Federico A, Bresolin N, Comi GP.
Neurology. 2008;71(24):1959-66.
Optic atrophy Spastic paraparesis
MAD2L1BP MFN2
p|SUB|R|104|W;RS#:119103268 rs119103268
Adult Biopsy Brain Diseases, Metabolic Charcot-Marie-Tooth Disease Child Cognition Disorders DNA Mutational Analysis Energy Metabolism Genetic Predisposition to Disease Guanosine Triphosphate Phosphohydrolases Heterozygote Homo sapiens Magnetic Resonance Spectroscopy Male Membrane Proteins Missense Mutation Mitochondrial Diseases Mitochondrial Proteins Phosphates Vision Disorders Visual Cortex
1
(17.5%)		 11071149
 Complicated hereditary spastic paraplegia with peripheral neuropathy, optic atrophy and mental retardation.
Miyama S, Arimoto K, Kimiya S, Tomi H.
Neuropediatrics. 2000;31(4):214-7.
Optic atrophy Spasticity
Brain Child Females Homo sapiens Intellectual Disability Magnetic Resonance Imaging Optic Atrophy Paraplegia Peripheral Nervous System Diseases Severity of Illness Index Somatosensory Evoked Potentials
1
(17.5%)		 8576556
 Genetic heterogeneity of hereditary motor and sensory neuropathy type VI.
Ippel EF, Wittebol-Post D, Jennekens FG, Bijlsma JB.
J Child Neurol. 1995;10(6):459-63.
Blindness Muscle weakness
Child, Preschool Females Genetic Heterogeneity Hereditary Sensory and Autonomic Neuropathies Homo sapiens Male Middle Aged
5
(4.0%)		 25957633
 Acute optic neuropathy associated with a novel MFN2 mutation.
Leonardi L, Marcotulli C, Storti E, Tessa A, Serrao M, Parisi V, Santorelli FM, Pierelli F, Casali C.
J Neurol. 2015;262(7):1678-80.
Sensory neuropathy
c|SUB|C|775|T;RS#:587777875 p|SUB|R|259|C;RS#:587777875 rs587777875 rs755065651
Adult Guanosine Triphosphate Phosphohydrolases Homo sapiens Male Mitochondrial Proteins Mutation
5
(4.0%)		 22466841
 Coenzyme Q10 therapy in hereditary motor sensory neuropathy type VI with novel mitofusin 2 mutation.
Takahashi R, Ikeda T, Hamaguchi A, Iwasa K, Yamada M.
Intern Med. 2012;51(7):791-3.
Visual impairment
MFN2
Adult Amino Acid Substitution Base Sequence Charcot-Marie-Tooth Disease DNA Mutational Analysis Guanosine Triphosphate Phosphohydrolases Hereditary Motor and Sensory Neuropathies Homo sapiens Male Missense Mutation Mitochondrial Proteins Optic Atrophies, Hereditary Visual Acuity Visual Fields ubidecarenone
5
(4.0%)		 21707411
(3155637)
 Structural and functional measures of inner retinal integrity following visual acuity improvement in a patient with hereditary motor and sensory neuropathy type VI.
Gowrisankaran S, Anastasakis A, Fishman GA, Alexander KR.
Ophthalmic Genet. 2011;32(3):188-92.
Optic atrophy
MFN2
c|SUB|C|1090|T;RS#:119103265 p|SUB|R|364|W;RS#:119103265 rs119103265 rs879254011
Adult Charcot-Marie-Tooth Disease Electroretinography Guanosine Triphosphate Phosphohydrolases Homo sapiens Male Membrane Proteins Mitochondrial Proteins Nerve Fibers Point Mutation Retinal Diseases Retinal Ganglion Cells Tomography, Optical Coherence Vision Disorders Visual Acuity Visual Fields
5
(4.0%)		 14516807
 Hereditary motor and sensory neuropathy type VI with optic atrophy.
Voo I, Allf BE, Udar N, Silva-Garcia R, Vance J, Small KW.
Am J Ophthalmol. 2003;136(4):670-7.
Optic atrophy
OPA1
Adult Child DNA Mutational Analysis Females Guanosine Triphosphate Phosphohydrolases Hereditary Motor and Sensory Neuropathies Homo sapiens Male Middle Aged Optic Atrophy 1 Optic Disk Syndrome Visual Acuity
        

Phenotype(s) retrieved from Orphanet

    Total: 0

HPO ID Term Frequency


Phenotype(s) retrieved from case reports

    Total: 6

HPO ID Term # of case reports
HP:0000648 Optic atrophy 4
HP:0000763 Sensory neuropathy 2
HP:0001138 Optic neuropathy 2
HP:0000505 Visual impairment 1
HP:0000618 Blindness 1
HP:0001324 Muscle weakness 1


Causative gene(s) retrieved from Orphanet

    Total: 2

Gene Symbol Gene Name Entrez Gene ID
SLC25A46 solute carrier family 25 member 46 91137
MFN2 mitofusin 2 9927