Infantile neuraxonal dystrophy
| Classification according to ICD-10 | |
|---|---|
| G23.0 | Hallervorden-Spatz syndrome |
| ICD-10 online (WHO version 2019) | |
The Infantile Neuroaxonal dystrophy (INAD) is a rare congenital neurodegenerative disease with dystrophy of Neuroaxone in childhood.
Synonyms are: Seitelberger disease; INAD; INAD1; PLAN; Phospholipase A2-associated neurodegeneration
The name refers to the first authors of the first description from 1952 by the Austrian neuropathologist Franz Seitelberger .
A special form (atypical form) is neurodegeneration with iron deposits in the brain , formerly Hallervorden-Spatz syndrome and Karak syndrome .
distribution
The frequency is unknown; more than 150 patients have been described to date. Inheritance is autosomal - recessive .
root cause
The disease are mutations in PLA2G6 - gene on chromosome 22 locus q13.1 basis that independent calcium-by Group VI Phospholipase A₂ coded.
A disruption of the phospholipid metabolism leads to abnormal iron storage in the cells.
Clinical manifestations
Clinical criteria are:
- Manifestation between 6 months and 3 years
- neurodegenerative disease with developmental delay and regression
- Symmetrical pyramidal orbit signs
- Trunked muscle hypotonia , later spasticity and hyperreflexia , development of contractures
- Visual disturbances, optic atrophy to amaurosis
- Restless movements of the face, tongue and masticatory muscles
- Disorders of pain sensitivity and temperature regulation
- dementia
- Myoclonic seizures
literature
- G. Lin, PT Lee, K. Chen, D. Mao, KL Tan, Z. Zuo, WW Lin, L. Wang, HJ Bellen: Phospholipase PLA2G6, a Parkinsonism-Associated Gene, Affects Vps26 and Vps35, Retromer Function, and Ceramide Levels, Similar to α-Synuclein Gain. In: Cell Metabolism. Vol. 28, No. 4, October 2018, pp. 605–618.e6, doi: 10.1016 / j.cmet.2018.05.019 , PMID 29909971
- JL Sinskey, RS Holzman: Perioperative considerations in infantile neuroaxonal dystrophy. In: Pediatric anesthesia. Vol. 27, No. 3, March 2017, pp. 322-324, doi: 10.1111 / pan.13081 , PMID 28177173 .
- A. Iodice, C. Spagnoli, GG Salerno, D. Frattini, G. Bertani, P. Bergonzini, F. Pisani, C. Fusco: Infantile neuroaxonal dystrophy and PLA2G6-associated neurodegeneration: An update for the diagnosis. In: Brain & development. Vol. 39, No. 2, February 2017, pp. 93-100, doi: 10.1016 / j.braindev.2016.08.012 , PMID 27884548 (review).
- N. Gordon: Infantile neuroaxonal dystrophy (Seitelberger's disease). In: Developmental medicine and child neurology. Vol. 44, No. 12, December 2002, pp. 849-851, PMID 12455862 (review).
Individual evidence
- ↑ a b c d Infantile Neuroaxonal Dystrophy. In: Orphanet (Rare Disease Database).
- ↑ a b Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
- ↑ F. Seitelberger: An unknown form of infantile lipoid storage disease of the brain. In: Proceedings 1st International Congress of Neuropathology, Rome, Sept. 8-13 , 1952, Vol. 3, Turin: Rosenberg and Sellier (pub.) 1954. pp. 323-333.
- ↑ Neurodegeneration with iron storage in the brain. In: Orphanet (Rare Disease Database).
- ^ Infantile neuroaxonal dystrophy 1. In: Online Mendelian Inheritance in Man . (English)
