Unverricht-Lundborg disease

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Classification according to ICD-10
G40.3 Generalized idiopathic epilepsy and epileptic syndromes
ICD-10 online (WHO version 2019)

The Unverricht-Lundborg disease (ULD) is the most common and most mild (without increasing disorder of cognition ) form of the rare congenital Progressive myoclonic epilepsy (PME).

Synonyms are: epilepsy, myoclonic progressive, type 1; Myoclonus epilepsy, progressive. Type 1; PME type 1; EPM1; Unverricht-Lundborg Syndrome; Unverricht syndrome; Lundborg-Unverricht disease; Lafora-Unverricht syndrome; Myoconus Epilepsy Failure

The name refers to the first authors of the first description from 1891 by the German internist Heinrich Unverricht (September 18, 1853 - April 22, 1912) and from 1903 by the Swedish neurologist Herman Lundborg .

distribution

The frequency is given as 1 - 9 in 1,000,000, in certain countries ( Finland , La Réunion and in the Maghreb ) it is higher. Inheritance is autosomal - recessive .

root cause

The disease are mutations in CSTB - gene on chromosome 21 locus q22.3 based encoding cystatin B.

Clinical manifestations

Clinical criteria are:

  • Onset of the disease between the ages of 8 and 15
  • generalized tonic-clonic seizures
  • Reduced drive, clumsiness, speech difficulties
  • Photosensitivity
  • often ataxia
  • Stabilization in adulthood

diagnosis

The diagnosis is based on clinical findings and confirmed by human genetic testing .

The prenatal detection is also possible.

Medical imaging reveals unspecific changes subcortically in the white matter , thalamus and cerebellum with axonal degeneration .

literature

  • A. Crespel, P. Gelisse, NP Tang, P. Genton: Perampanel in 12 patients with Unverricht-Lundborg disease. In: Epilepsia. [Electronic publication before going to press] February 2017, doi: 10.1111 / epi.13662 , PMID 28166365 .
  • A. Crespel, E. Ferlazzo, S. Franceschetti, P. Genton, R. Gouider, R. Kälviäinen, M. Korja, MK Lehtinen, E. Mervaala, M. Simonato, A. Vaarmann: Unverricht-Lundborg disease. In: Epileptic disorders: international epilepsy journal with videotape. Vol. 18, S2, September 2016, pp. 28-37, doi: 10.1684 / epd.2016.0841 , PMID 27582036 .
  • R. Kälviäinen, J. Khyuppenen, P. Koskenkorva, K. Eriksson, R. Vanninen, E. Mervaala: Clinical picture of EPM1-Unverricht-Lundborg disease. In: Epilepsia. Vol. 49, No. 4, April 2008, pp. 549-556, doi: 10.1111 / j.1528-1167.2008.01546.x , PMID 18325013 (review).

Individual evidence

  1. ↑ 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 .
  2. ↑ a b c Unverricht-Lundborg disease. In: Orphanet (Rare Disease Database).
  3. ↑ H. Unverricht: The Myoclonie. Berlin: Franz Deuticke Verlag, 1891.
  4. ↑ H. Unverricht: About familial myoclonia. In: Deutsche Zeitschrift für Nervenheilkunde Vol. 7, 1895, pp. 32–67.
  5. ^ HB Lundborg: The progressive myoclonus epilepsy (Unverricht's myoklonie). Vol. 8. Uppsala Verlag Almqvist and Wiksell 1903, pp. 567-570.
  6. ↑ Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg).  In: Online Mendelian Inheritance in Man . (English)
  7. ↑ Radiopaedia

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