Tubulinopathies: pathology
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Tubulinopathies: pathology. Microlissencephaly, Lissencephaly, Generalized polymicrogyria-like cortical dysplasia. Fully referenced neurology checklist.
Malformations of cortical development (MCD): types
- Microlissencephaly
- Lissencephaly
- Central pachygyria and polymicrogyria-like cortical dysplasia
- Generalized polymicrogyria-like cortical dysplasia
- Simplified gyral pattern with focal polymicrogyria
- Schizencephaly
Malformations of cortical development (MCD): genotype correlations
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Dysmorphic basal ganglia
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Hypoplasia of midline commissural structures
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Hypoplasia of other cranial structures
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Other pathological features
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References
- Bahi-Buisson N, Poirier K, Fourniol F, et al. The wide spectrum of tubulinopathies: what are the key features for the diagnosis? Brain 2014; 137:1676-1700.
- Romaniello R, Arrigoni F, Fry AE, et al. Tubulin genes and malformations of cortical development. Eur J Med Genet 2018; pii: S1769-7212(17)30725-5 (Epub ahead of print).
- Poirier K, Keays DA, Francis F, et al. Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A). Hum Mutat 2007; 28:1055-1064.
- Guerrini R, Mei D, Cordelli DM, Pucatti D, Franzoni E, Parrini E. Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations. Eur J Hum Genet 2012; 20:995-998.
- Bahi-Buisson N, Poirier K, Fourniol F, et al. The wide spectrum of tubulinopathies: what are the key features for the diagnosis? Brain 2014; 137:1676-1700.
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