Tubulinopathies: clinical features
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Tubulinopathies: clinical features. Microcephaly, Epilepsy, Spasticity, Hypotonia, Ataxia, Impaired mobility. Fully referenced neurology checklist.
Neurological features
- Microcephaly
- Epilepsy
- Spasticity
- Hypotonia
- Ataxia
- Impaired mobility
- Developmental delay
- Absent speech
Systemic features
Locked: subscribe to see this section.
Foetal features
Locked: subscribe to see this section.
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.
- Gardner JF, Cushion TD, Niotakis G, et al. Clinical and functional characterization of the recurrent TUBA1A p.(Arg2His) mutation. Brain Sci 2018; pii: E145.
- Romaniello R, Arrigoni F, Cavallini A, et al. Brain malformations and mutations in α- and β-tubulin genes: a review of the literature and description of two new cases. Dev Med Child Neurol 2014; 56:354-360.
- Fukumura S, Kato M, Kawamura K, Tsuzuki A, Tsutsumi H. A Mutation in the Tubulin-Encoding TUBB3 Gene Causes Complex Cortical Malformations and Unilateral Hypohidrosis. Child Neurol Open 2016; 3:2329048X16665758.
- Laquerriere A, Gonzales M, Saillour Y, et al. De novo TUBB2B mutation causes fetal akinesia deformation sequence with microlissencephaly: an unusual presentation of tubulinopathy. Eur J Med Genet 2016; 59:249-256.
- And 1 more. Subscribe to see the full list
