Hereditary Motor And Sensory Neuropathy VI

mutation in MFN2

Also Known As:

CMT6; Charcot-Marie-Tooth Disease, Type 6; HMSN VI; HMSN6; Peripheral Neuropathy And Optic Atrophy

Networked: 7 relevant articles (1 outcomes, 1 trials/studies)

Relationship Network

Disease Context: Research Results

Nervous System Diseases: 14178
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Nervous System Malformations: 35
    - Hereditary Sensory and Motor Neuropathy: 249
      - Hereditary Motor And Sensory Neuropathy VI: 7
- Inborn Genetic Diseases: 11939
  - Nervous System Heredodegenerative Disorders: 63
    - Hereditary Sensory and Motor Neuropathy: 249
      - Hereditary Motor And Sensory Neuropathy VI: 7

Related Diseases

1.	Hereditary Sensory and Motor Neuropathy (Dejerine Sottas Disease)
2.	Vision Disorders (Hemeralopia)
3.	Hereditary Motor And Sensory Neuropathy VI
4.	Stroke (Strokes)
5.	MELAS Syndrome (Syndrome, MELAS)

Experts

1.	Chamberlin, Adam: 1 article (12/2018)
2.	El-Dairi, Mays Antonine: 1 article (12/2018)
3.	Gonzalez-Krellwitz, Laura A: 1 article (12/2018)
4.	Harris, Belinda: 1 article (12/2018)
5.	Huang, Taosheng: 1 article (12/2018)
6.	Kaylor, Julie: 1 article (12/2018)
7.	Lemmon, Monica: 1 article (12/2018)
8.	McConkie-Rosell, Allyn: 1 article (12/2018)
9.	McDonald, Marie T: 1 article (12/2018)
10.	Peng, Yanyan: 1 article (12/2018)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Hereditary Motor And Sensory Neuropathy VI:

1.	Retinaldehyde (Retinal)IBA 09/01/2011 - "To report measures of inner retinal integrity following improvement in visual acuity and visual fields in a patient with hereditary motor and sensory neuropathy type VI (HMSN VI). "
2.	coenzyme Q10 (CoQ10)IBA 01/01/2012 - "A 37-year-old patient with HMSN VI with a novel mitofusin 2 mutation was treated with high dose of CoQ10 (200 mg/day) for eight months. " 01/01/2012 - "The feasibility of Coenzyme Q10 (CoQ10) as a treatment for subacute visual impairment of HMSN VI was examined. " 01/01/2012 - "High dose CoQ10 therapy may improve the prognosis of subacute visual impairment in HMSN VI. To confirm the effectiveness of CoQ10 on HMSN VI, further studies are needed."
3.	GTP Phosphohydrolases (GTPases)IBA 08/01/2006 - "Mutations in the mitofusin 2 (MFN2) gene, which encodes a mitochondrial GTPase mitofusin protein, have recently been reported to cause both Charcot-Marie-Tooth 2A (CMT2A) and hereditary motor and sensory neuropathy VI (HMSN VI). "
4.	Proteins (Proteins, Gene)FDA Link 08/01/2006 - "Mutations in the mitofusin 2 (MFN2) gene, which encodes a mitochondrial GTPase mitofusin protein, have recently been reported to cause both Charcot-Marie-Tooth 2A (CMT2A) and hereditary motor and sensory neuropathy VI (HMSN VI). "
5.	Oxidoreductases (Dehydrogenase)IBA 12/01/2018 - "Recently, we have identified biallelic mutations in the mitochondrial flavoprotein "ferredoxin reductase" (FDXR) gene as a novel cause of mitochondriopathy, peripheral neuropathy, and optic atrophy. "
6.	Ligases (Synthetase)IBA 05/01/2014 - "Phosphoribosylpyrophosphate synthetase-I mutations cause X-linked CMT6, but until now, mutations in the recessive forms of disease have never been identified. "
7.	IsoenzymesIBA 03/01/2016 - "X-linked Charcot-Marie-Tooth disease type 6 (CMTX6) patients with a p.R158H mutation in the pyruvate dehydrogenase kinase isoenzyme 3 gene."
8.	FlavoproteinsIBA 12/01/2018 - "Recently, we have identified biallelic mutations in the mitochondrial flavoprotein "ferredoxin reductase" (FDXR) gene as a novel cause of mitochondriopathy, peripheral neuropathy, and optic atrophy. "
9.	Ferredoxins (Ferredoxin)IBA 12/01/2018 - "Recently, we have identified biallelic mutations in the mitochondrial flavoprotein "ferredoxin reductase" (FDXR) gene as a novel cause of mitochondriopathy, peripheral neuropathy, and optic atrophy. "
10.	Mitochondrial DNA (mtDNA)IBA 05/01/2009 - "We will consider mtDNA based syndromes such as LHON/dystonia/Mitochondrial Encephalomyopahty Lactic Acidosis Stroke-like (MELAS)/Leigh overlapping syndrome, or nuclear based diseases such as Friedreich ataxia (mutations in FXN gene), deafness-dystonia-optic atrophy (Mohr-Tranebjerg) syndrome (mutations in TIMM8A), complicated hereditary spastic paraplegia (mutations in SPG7), DOA "plus" syndromes (mutations in OPA1), Charcot-Marie-Tooth type 2A (CMT2A) with optic atrophy or hereditary motor and sensory neuropathy type VI (HMSN VI) (mutations in MFN2), and Costeff syndrome and DOA with cataract (mutations in OPA3). "

Therapies and Procedures

1.	Therapeutics 01/01/2012 - "High dose CoQ10 therapy may improve the prognosis of subacute visual impairment in HMSN VI. To confirm the effectiveness of CoQ10 on HMSN VI, further studies are needed."