Lissencefalia

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Lissencefalia
Cervello di un individuo con lissencefalia
Malattia rara
Cod. esenz. SSNRN0050
Specialitàgenetica clinica e neurologia
Classificazione e risorse esterne (EN)
OMIM611603, 615191, 300067, 607432, 614019 e 300215
MeSHD054082
GeneReviewsPanoramica e Panoramica
Modifica dati su Wikidata · Manuale

La lissencefalia [1] è una malattia genetica rara, in cui la superficie cerebrale è liscia.[2] È causata da un'anomalia nella relina, glicoproteina codificata da un gene nel cromosoma 7, e da alterazioni dell'enzima PAFAH1B1 codificato dal gene LIS1 del cromosoma 17 nella lissencefalia associata alla sindrome di Miller-Dieker (epilessia, polidattilia e ritardo mentale).

Sintomatologia

Fra i sintomi e i segni più comuni vi è un'anomalia dello sviluppo della corteccia cerebrale: questo si suddivide a seconda della gravità, dalla condizione peggiore possibile agiria a quella meno grave pachigiria.[3]

Eziologia

I geni che originano tali deformazioni sono stati parzialmente identificati fino ad oggi: fra questi il principale risulta il LIS1, e poi vi sono coinvolgimenti del DCX e il TUBA1A.[4]

Note

  1. ^ Dal greco λισσός, lissòs, "liscio" ed encefalo.
  2. ^ Lissencefalia, su treccani.it. URL consultato l'8 marzo 2024.
  3. ^ Hirotsune S., Molecular mechanism of lissencephaly--how LIS1 and NDEL1 regulate cytoplasmic dynein?, in Brain Nerve., vol. 60, aprile 2008, pp. 375-381.
  4. ^ Mochida GH., Molecular genetics of lissencephaly and microcephaly, in Brain Nerve., vol. 60, aprile 2008, pp. 437-444.

Bibliografia

Voci correlate

Altri progetti

Collegamenti esterni

  • (EN) Sito sulla lissencefalia, su lissencephaly.org.uk. URL consultato il 29 giugno 2008 (archiviato dall'url originale il 16 aprile 2009).
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