Peripheral axonal distension

MedGen UID:: 1841985
•Concept ID:: C5826603
•: Finding

HPO:	HP:0034711

Definition

An abnormal histological finding characterized by an increase in the cross-section area of peripheral nerve axons (up to 20-25 micrometers in diameter). [from HPO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVPeripheral axonal distension

Abnormality of prenatal development or birth
- Fetal anomaly
  - Congenital Systemic Disorder
    - Abnormality of the nervous system
      - Abnormal nervous system morphology
        Abnormal peripheral nervous system morphology
        Peripheral axonal distension

Recent clinical studies

Prognosis

The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy.

Bomont P, Cavalier L, Blondeau F, Ben Hamida C, Belal S, Tazir M, Demir E, Topaloglu H, Korinthenberg R, Tüysüz B, Landrieu P, Hentati F, Koenig M
Nat Genet 2000 Nov;26(3):370-4. doi: 10.1038/81701. PMID: 11062483

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Clinical prediction guides

α-Synuclein overexpressing transgenic mice show internal organ pathology and autonomic deficits.

Hallett PJ, McLean JR, Kartunen A, Langston JW, Isacson O
Neurobiol Dis 2012 Aug;47(2):258-67. Epub 2012 Apr 19 doi: 10.1016/j.nbd.2012.04.009. PMID: 22549133 Free PMC Article

The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy.

Neuropathology of various types of Niemann-Pick disease.

Elleder M, Jirásek A
Acta Neuropathol Suppl 1981;7:201-3. doi: 10.1007/978-3-642-81553-9_60. PMID: 6939235

Changes in the voluntary muscles and the peripheral nerves in an autopsy case of MPS type II (Hunter).

Schmitt HP
Neuropediatrics 1981 Feb;12(1):83-91. doi: 10.1055/s-2008-1059642. PMID: 6789225

Peripheral intraaxonal storage in Tay-Sachs' disease (GM2-gangliosidosis type 1.

Schmitt HP, Berlet H, Volk B
J Neurol Sci 1979 Dec;44(1):115-24. doi: 10.1016/0022-510x(79)90229-6. PMID: 512688

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