Tubulin-related disorders
Evidence-based neurology checklist on tubulin-related disorders: TUBB3 E410K syndrome Kallman syndrome Congenital fibrosis of extraocular muscles (CFEOM) Intellectual impairment Facial weakness Tracheomalacia Vocal cord paralysis Cyclic vomiting Peripheral neuropathy Osteoporosis Cough syncope…
TUBB3 E410K syndrome
- Kallman syndrome
- Congenital fibrosis of extraocular muscles (CFEOM)
- Intellectual impairment
- Facial weakness
- Tracheomalacia
- Vocal cord paralysis
- Cyclic vomiting
- Peripheral neuropathy
- Osteoporosis
- Cough syncope
Hypomyelination with atrophy of the basal ganglia and cerebellum
Other tubulin-related disorders
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.
- Balasubramanian R, Chew S, MacKinnon SE, et al. Expanding the phenotypic spectrum and variability of endocrine abnormalities associated with TUBB3 E410K syndrome. J Clin Endocrinol Metab 2015; 100:E473-E477.
- Nakamura Y, Matsumoto H, Zaha K, Uematsu K, Nonoyama S. TUBB3 E410K syndrome with osteoporosis and cough syncope in a patient previously diagnosed with atypical Moebius syndrome. Brain Dev 2018; 40:233-237.
- Hamilton EM, Polder E, Vanderver A, et al. Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation. Brain 2014; 137:1921-1930.
- Ferreira C, Poretti A, Cohen J, Hamosh A, Naidu S. Novel TUBB4A mutations and expansion of the neuroimaging phenotype of hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC). Am J Med Genet A 2014; 164A:1802-1807.
- And 3 more. Subscribe to see the full list
