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Heredodegenerative Disorders, Nervous System

MedGen UID:: 155945
•Concept ID:: C0751870
•: Disease or Syndrome

Synonyms:

Degenerative Disease, Nervous System, Hereditary; Degenerative Hereditary Diseases, Nervous System; Degenerative Hereditary Disorders, Nervous System; Disease, Hereditary Neurodegenerative; Disease, Neurodegenerative Hereditary; Diseases, Hereditary Neurodegenerative; Diseases, Neurodegenerative Hereditary; Hereditary Degenerative Disorders, Nervous System; Hereditary Disease, Neurodegenerative; Hereditary Diseases, Neurodegenerative; Hereditary Neurodegenerative Disease; Hereditary Neurodegenerative Diseases; Hereditary-Degenerative Disorders, Nervous System; Nervous System Degenerative Hereditary Diseases; Nervous System Diseases, Degenerative, Hereditary; Nervous System Hereditary Degenerative Diseases; Neurodegenerative Disease, Hereditary; Neurodegenerative Diseases, Hereditary; Neurodegenerative Hereditary Disease; Neurodegenerative Hereditary Diseases

Definition

Inherited disorders characterized by progressive atrophy and dysfunction of anatomically or physiologically related neurologic systems. [from MeSH]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVHeredodegenerative Disorders, Nervous System

Pathological Conditions, Signs and Symptoms
- Pathological process
  - Disease
    - Disorder by Site
      - Disorder of nervous system
        Degenerative Disease of Nervous System, Unspecified
        Heredodegenerative Disorders, Nervous System
        Alexander disease
        Alexander disease type I
        Alexander disease type II
        Batten-Turner congenital myopathy
        Congenital myotonia, autosomal dominant form
        Congenital myotonia, autosomal recessive form
        Chorea-acanthocytosis
        Cockayne syndrome
        Cockayne syndrome type 1
        Cockayne syndrome type 2
        Cockayne syndrome type 3
        COFS syndrome
        Cerebrooculofacioskeletal syndrome 1
        Cerebrooculofacioskeletal syndrome 4
        Familial amyloid polyneuropathy
        Gerstmann-Straussler-Scheinker syndrome
        Hereditary Central Nervous System Demyelinating Diseases
        Adrenoleukodystrophy
        Adrenomyeloneuropathy
        Cerebral Adrenoleukodystrophy
        X-linked cerebral adrenoleukodystrophy
        Galactosylceramide beta-galactosidase deficiency
        Adult Krabbe disease
        Infantile Krabbe disease
        Late-infantile/juvenile Krabbe disease
        Metachromatic leukodystrophy
        Metachromatic leukodystrophy, adult type
        Metachromatic leukodystrophy, juvenile type
        Metachromatic leukodystrophy, late infantile form
        Pelizaeus-Merzbacher disease
        Null syndrome
        Pelizaeus-Merzbacher disease in female carriers
        Pelizaeus-Merzbacher disease, classic form
        Pelizaeus-Merzbacher disease, connatal form
        Pelizaeus-Merzbacher disease, transitional form
        Spongy degeneration of central nervous system
        Mild Canavan disease
        Severe Canavan disease
        Hereditary motor and sensory neuropathy
        Alstrom syndrome
        Charcot-Marie-Tooth disease
        Charcot-Marie-Tooth disease axonal type 2K
        Charcot-Marie-Tooth disease dominant intermediate C
        Charcot-Marie-Tooth disease dominant intermediate E
        Charcot-Marie-Tooth disease dominant intermediate F
        Charcot-Marie-Tooth disease type 2
        Charcot-Marie-Tooth disease type 4
        Charcot-Marie-Tooth disease type 1B
        Charcot-Marie-Tooth disease type 2A1
        Charcot-Marie-Tooth disease type 2D
        Charcot-Marie-Tooth disease type 2E
        Charcot-Marie-Tooth disease type 4C
        Charcot-Marie-Tooth disease type 4J
        Charcot-Marie-Tooth disease X-linked dominant 1
        Charcot-Marie-Tooth disease, type 2A
        Charcot-Marie-Tooth disease, type I
        Charcot-Marie-Tooth disease, type IA
        Charcot-Marie-Tooth Neuropathy X
        Dejerine-Sottas disease
        Neuronopathy, distal hereditary motor, type 1
        Polyneuropathy-hand defect syndrome
        Giant axonal neuropathy
        Giant axonal neuropathy 1
        Giant axonal neuropathy 2
        Hereditary spastic paraplegia
        Cerebral palsy, spastic quadriplegic, 3
        Hereditary spastic paraplegia 7
        Hereditary spastic paraplegia 11
        Hereditary spastic paraplegia 3A
        Hereditary spastic paraplegia 47
        Hereditary spastic paraplegia 5A
        Spastic Paraplegia 4
        Spastic Paraplegia 30
        Spastic Paraplegia 76
        Phytanic acid storage disease
        Hereditary optic atrophy
        Autosomal dominant optic atrophy classic form
        Dominant hereditary optic atrophy
        Autosomal dominant optic atrophy and peripheral neuropathy
        Autosomal dominant optic atrophy plus syndrome
        Optic atrophy 3
        Leber optic atrophy
        Wolfram syndrome
        Wolfram syndrome 1
        Wolfram syndrome 2
        Wolfram syndrome, mitochondrial form
        Hereditary sensory and autonomic neuropathy
        Congenital insensitivity to pain with hyperhidrosis
        Familial dysautonomia
        X-linked hereditary sensory and autonomic neuropathy with hearing loss
        Huntington disease
        Juvenile Huntington disease
        Westphal disease
        Kennedy disease
        Lafora disease
        Myotonic dystrophy
        Congenital myotonic dystrophy
        Myotonic cataract
        Myotonic dystrophy type 2
        Steinert myotonic dystrophy syndrome
        Adult-onset Steinert myotonic dystrophy
        Childhood-onset Steinert myotonic dystrophy
        Congenital-onset Steinert myotonic dystrophy
        Juvenile-onset Steinert myotonic dystrophy
        Late-onset Steinert myotonic dystrophy
        Neurofibromatosis
        Aggravated Neurofibromatosis
        Neurofibroma by anatomical location
        Cardiac neurofibroma
        Gastric neurofibroma
        Paraspinal neurofibroma
        Renal neurofibroma
        Spinal neurofibroma
        Subcutaneous neurofibroma
        Tongue neurofibroma
        Neurofibromatosis, type 1
        Chromosome 17q11.2 deletion syndrome, 1.4Mb
        Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion
        Neurofibromatosis Type 1 with Inoperable, Progressive, Symptomatic Plexiform Neurofibromas
        Recurrent Neurofibromatosis Type 1
        Refractory Neurofibromatosis Type 1
        Neurofibromatosis, type 2
        Neurofibromatosis, type IV, of Riccardi
        Occasional neurofibromas
        Plexiform neurofibroma
        Unresectable Plexiform Neurofibroma
        Neuronal ceroid lipofuscinosis
        Adult neuronal ceroid lipofuscinosis
        Ceroid lipofuscinosis, neuronal, 4 (Kufs type)
        Ceroid lipofuscinosis, neuronal, 6A
        Ceroid lipofuscinosis, neuronal, 6B (Kufs type)
        Neuronal ceroid lipofuscinosis 1
        Neuronal ceroid lipofuscinosis 10
        Neuronal ceroid lipofuscinosis 11
        Neuronal ceroid lipofuscinosis 13
        Congenital neuronal ceroid lipofuscinosis
        Infantile neuronal ceroid lipofuscinosis
        Progressive myoclonic epilepsy type 3
        Juvenile neuronal ceroid lipofuscinosis
        Neuronal ceroid lipofuscinosis 2
        Neuronal ceroid lipofuscinosis 3
        Neuronal ceroid lipofuscinosis 8
        Neuronal ceroid lipofuscinosis 9
        Late-infantile neuronal ceroid lipofuscinosis
        Neuronal ceroid lipofuscinosis 5
        Neuronal ceroid lipofuscinosis 7
        Neuronal ceroid lipofuscinosis 8 northern epilepsy variant
        Neuronal Ceroid Lipofuscinosis Type 4B
        Parkinsonism due to ATP13A2 deficiency
        Pigmentary pallidal degeneration
        Atypical pantothenate kinase-associated neurodegeneration
        Classic pantothenate kinase-associated neurodegeneration
        Spinal Muscular Atrophy of Childhood
        spinocerebellar disease
        Early onset cerebellar ataxia with myoclonus
        Friedreich ataxia
        Friedreich ataxia 1
        Friedreich ataxia 2
        Olivopontocerebellar atrophy
        Spinocerebellar atrophy
        Ataxia with oculomotor apraxia type 3
        Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
        Ataxia-telangiectasia syndrome
        Autosomal dominant cerebellar ataxia
        Autosomal recessive cerebellar ataxia
        Azorean disease
        Familial isolated deficiency of vitamin E
        Spinocerebellar ataxia 7
        Spinocerebellar ataxia type 1
        Spinocerebellar ataxia type 2
        Spinocerebellar ataxia type 6
        Spinocerebellar ataxia type 12
        Spinocerebellar ataxia type 17
        Spinocerebellar Ataxia Type 19/22
        Spinocerebellar ataxia type 31
        Spinocerebellar ataxia type 36
        Spinocerebellar ataxia type 42
        Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
        Torsion dystonia
        Idiopathic familial dystonia
        Idiopathic non-familial dystonia
        Tourette syndrome
        Tuberous sclerosis syndrome
        Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
        Tuberous sclerosis 1
        Tuberous sclerosis 2
        Unverricht-Lundborg syndrome
        Wilson disease
        X-linked intellectual disability
        Classical Lissencephalies and Subcortical Band Heterotopias
        Coffin-Lowry syndrome
        Danon disease
        Fragile X syndrome
        Lesch-Nyhan syndrome
        Menkes kinky-hair syndrome
        Mucopolysaccharidosis, MPS-II
        Mucopolysaccharidosis type 2, attenuated form
        Mucopolysaccharidosis type 2, severe form
        Pyruvate dehydrogenase complex deficiency
        Pyruvate dehydrogenase E1-alpha deficiency
        Pyruvate dehydrogenase E1-beta deficiency
        Pyruvate dehydrogenase E2 deficiency
        Pyruvate dehydrogenase E3 deficiency
        Pyruvate dehydrogenase E3-binding protein deficiency
        Pyruvate dehydrogenase phosphatase deficiency
        Rett syndrome
        Rett syndrome, congenital variant
        Severe neonatal-onset encephalopathy with microcephaly

Professional guidelines

PubMed

Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations.

Northrup H, Aronow ME, Bebin EM, Bissler J, Darling TN, de Vries PJ, Frost MD, Fuchs Z, Gosnell ES, Gupta N, Jansen AC, Jóźwiak S, Kingswood JC, Knilans TK, McCormack FX, Pounders A, Roberds SL, Rodriguez-Buritica DF, Roth J, Sampson JR, Sparagana S, Thiele EA, Weiner HL, Wheless JW, Towbin AJ, Krueger DA; International Tuberous Sclerosis Complex Consensus Group
Pediatr Neurol 2021 Oct;123:50-66. Epub 2021 Jul 24 doi: 10.1016/j.pediatrneurol.2021.07.011. PMID: 34399110

Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation.

Legius E, Messiaen L, Wolkenstein P, Pancza P, Avery RA, Berman Y, Blakeley J, Babovic-Vuksanovic D, Cunha KS, Ferner R, Fisher MJ, Friedman JM, Gutmann DH, Kehrer-Sawatzki H, Korf BR, Mautner VF, Peltonen S, Rauen KA, Riccardi V, Schorry E, Stemmer-Rachamimov A, Stevenson DA, Tadini G, Ullrich NJ, Viskochil D, Wimmer K, Yohay K; International Consensus Group on Neurofibromatosis Diagnostic Criteria (I-NF-DC), Huson SM, Evans DG, Plotkin SR
Genet Med 2021 Aug;23(8):1506-1513. Epub 2021 May 19 doi: 10.1038/s41436-021-01170-5. PMID: 34012067 Free PMC Article

Friedreich's ataxia: clinical features, pathogenesis and management.

Cook A, Giunti P
Br Med Bull 2017 Dec 1;124(1):19-30. doi: 10.1093/bmb/ldx034. PMID: 29053830 Free PMC Article

See all (3221)

Recent clinical studies

Etiology

Recessive ataxias.

Synofzik M, Németh AH
Handb Clin Neurol 2018;155:73-89. doi: 10.1016/B978-0-444-64189-2.00005-6. PMID: 29891078

Neurological disorders associated with DNA strand-break processing enzymes.

Jiang B, Glover JN, Weinfeld M
Mech Ageing Dev 2017 Jan;161(Pt A):130-140. Epub 2016 Jul 25 doi: 10.1016/j.mad.2016.07.009. PMID: 27470939 Free PMC Article

Clinical implications of neuropharmacogenetics.

Corvol JC, Devos D, Hulot JS, Lacomblez L
Rev Neurol (Paris) 2015 Jun-Jul;171(6-7):482-97. Epub 2015 May 23 doi: 10.1016/j.neurol.2015.04.003. PMID: 26008819

PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron.

Morgan NV, Westaway SK, Morton JE, Gregory A, Gissen P, Sonek S, Cangul H, Coryell J, Canham N, Nardocci N, Zorzi G, Pasha S, Rodriguez D, Desguerre I, Mubaidin A, Bertini E, Trembath RC, Simonati A, Schanen C, Johnson CA, Levinson B, Woods CG, Wilmot B, Kramer P, Gitschier J, Maher ER, Hayflick SJ
Nat Genet 2006 Jul;38(7):752-4. Epub 2006 Jun 18 doi: 10.1038/ng1826. PMID: 16783378 Free PMC Article

Neurological channelopathies.

Graves TD, Hanna MG
Postgrad Med J 2005 Jan;81(951):20-32. doi: 10.1136/pgmj.2004.022012. PMID: 15640425 Free PMC Article

See all (85)

Diagnosis

Charcot-Marie-Tooth Disease and Other Hereditary Neuropathies.

Klein CJ
Continuum (Minneap Minn) 2020 Oct;26(5):1224-1256. doi: 10.1212/CON.0000000000000927. PMID: 33003000

Recessive ataxias.

Synofzik M, Németh AH
Handb Clin Neurol 2018;155:73-89. doi: 10.1016/B978-0-444-64189-2.00005-6. PMID: 29891078

Clinical and imaging diagnosis for heredodegenerative diseases.

Boddaert N, Brunelle F, Desguerre I
Handb Clin Neurol 2013;111:63-78. doi: 10.1016/B978-0-444-52891-9.00006-3. PMID: 23622151

Trinucleotide repeat disorders.

Orr HT, Zoghbi HY
Annu Rev Neurosci 2007;30:575-621. doi: 10.1146/annurev.neuro.29.051605.113042. PMID: 17417937

Neurological channelopathies.

Graves TD, Hanna MG
Postgrad Med J 2005 Jan;81(951):20-32. doi: 10.1136/pgmj.2004.022012. PMID: 15640425 Free PMC Article

See all (124)

Therapy

Delivery of CRISPR/Cas9 by Novel Strategies for Gene Therapy.

Wang L, Zheng W, Liu S, Li B, Jiang X
Chembiochem 2019 Mar 1;20(5):634-643. Epub 2018 Dec 11 doi: 10.1002/cbic.201800629. PMID: 30393919

Homozygous boricua TBCK mutation causes neurodegeneration and aberrant autophagy.

Ortiz-González XR, Tintos-Hernández JA, Keller K, Li X, Foley AR, Bharucha-Goebel DX, Kessler SK, Yum SW, Crino PB, He M, Wallace DC, Bönnemann CG
Ann Neurol 2018 Jan;83(1):153-165. doi: 10.1002/ana.25130. PMID: 29283439 Free PMC Article

Rehabilitation for Individuals With Genetic Degenerative Ataxia: A Systematic Review.

Milne SC, Corben LA, Georgiou-Karistianis N, Delatycki MB, Yiu EM
Neurorehabil Neural Repair 2017 Jul;31(7):609-622. Epub 2017 Jun 9 doi: 10.1177/1545968317712469. PMID: 28595509

Antisense oligonucleotide therapeutics for inherited neurodegenerative diseases.

Southwell AL, Skotte NH, Bennett CF, Hayden MR
Trends Mol Med 2012 Nov;18(11):634-43. Epub 2012 Sep 28 doi: 10.1016/j.molmed.2012.09.001. PMID: 23026741

In situ stem cell therapy: novel targets, familiar challenges.

Agrawal S, Schaffer DV
Trends Biotechnol 2005 Feb;23(2):78-83. doi: 10.1016/j.tibtech.2004.12.004. PMID: 15661344

See all (18)

Prognosis

Charcot-Marie-Tooth Disease and Other Hereditary Neuropathies.

Klein CJ
Continuum (Minneap Minn) 2020 Oct;26(5):1224-1256. doi: 10.1212/CON.0000000000000927. PMID: 33003000

Clinical implications of neuropharmacogenetics.

Corvol JC, Devos D, Hulot JS, Lacomblez L
Rev Neurol (Paris) 2015 Jun-Jul;171(6-7):482-97. Epub 2015 May 23 doi: 10.1016/j.neurol.2015.04.003. PMID: 26008819

Gaucher disease and the synucleinopathies: refining the relationship.

Campbell TN, Choy FY
Orphanet J Rare Dis 2012 Jan 31;7:12. doi: 10.1186/1750-1172-7-12. PMID: 22289779 Free PMC Article

Dysregulation of protein synthesis and disease.

Le Quesne JP, Spriggs KA, Bushell M, Willis AE
J Pathol 2010 Jan;220(2):140-51. doi: 10.1002/path.2627. PMID: 19827082

Polyalanine expansions in human.

Amiel J, Trochet D, Clément-Ziza M, Munnich A, Lyonnet S
Hum Mol Genet 2004 Oct 1;13 Spec No 2:R235-43. doi: 10.1093/hmg/ddh251. PMID: 15358730

See all (54)

Clinical prediction guides

Charcot-Marie-Tooth Disease and Other Hereditary Neuropathies.

Klein CJ
Continuum (Minneap Minn) 2020 Oct;26(5):1224-1256. doi: 10.1212/CON.0000000000000927. PMID: 33003000

Clinical implications of neuropharmacogenetics.

Corvol JC, Devos D, Hulot JS, Lacomblez L
Rev Neurol (Paris) 2015 Jun-Jul;171(6-7):482-97. Epub 2015 May 23 doi: 10.1016/j.neurol.2015.04.003. PMID: 26008819

CAG repeat disorder models and human neuropathology: similarities and differences.

Yamada M, Sato T, Tsuji S, Takahashi H
Acta Neuropathol 2008 Jan;115(1):71-86. Epub 2007 Sep 5 doi: 10.1007/s00401-007-0287-5. PMID: 17786457

Polyalanine expansions in human.

Amiel J, Trochet D, Clément-Ziza M, Munnich A, Lyonnet S
Hum Mol Genet 2004 Oct 1;13 Spec No 2:R235-43. doi: 10.1093/hmg/ddh251. PMID: 15358730

Rare causes of hereditary iron overload.

Ponka P
Semin Hematol 2002 Oct;39(4):249-62. doi: 10.1053/shem.2002.35638. PMID: 12382200

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Recent systematic reviews

Rehabilitation for Individuals With Genetic Degenerative Ataxia: A Systematic Review.

Milne SC, Corben LA, Georgiou-Karistianis N, Delatycki MB, Yiu EM
Neurorehabil Neural Repair 2017 Jul;31(7):609-622. Epub 2017 Jun 9 doi: 10.1177/1545968317712469. PMID: 28595509

A Systematic Review of the Huntington Disease-Like 2 Phenotype.

Anderson DG, Walker RH, Connor M, Carr J, Margolis RL, Krause A
J Huntingtons Dis 2017;6(1):37-46. doi: 10.3233/JHD-160232. PMID: 28339400

See all (2)

MedGen

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Heredodegenerative Disorders, Nervous System

Definition

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

Supplemental Content

Table of contents

Practice guidelines

Related information

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