PEBAT; Early-onset progressive encephalopathy with brain atrophy and thin corpus callosum
Description
Early-onset progressive encephalopathy with brain atrophy and thin corpus callosum (PEBAT) is an autosomal recessive neurodevelopmental and neurodegenerative disorder. Clinical features include developmental delay and profound intellectual disability, seizures, progressive spasticity, and early-onset cortical atrophy. Mutations in TBCD cause PEBAT. TBCD encodes one of the five co-chaperones playing a pivotal role in microtubule assembly.
Category
Nervous system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
08 Diseases of the nervous system
Other disorders of the nervous system
8E47 Encephalopathy, not elsewhere classified
H02261 PEBAT
Flex E, Niceta M, Cecchetti S, Thiffault I, Au MG, Capuano A, Piermarini E, Ivanova AA, Francis JW, Chillemi G, Chandramouli B, Carpentieri G, Haaxma CA, Ciolfi A, Pizzi S, Douglas GV, Levine K, Sferra A, Dentici ML, Pfundt RR, Le Pichon JB, Farrow E, Baas F, Piemonte F, Dallapiccola B, Graham JM Jr, Saunders CJ, Bertini E, Kahn RA, Koolen DA, Tartaglia M
Title
Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy.
Miyake N, Fukai R, Ohba C, Chihara T, Miura M, Shimizu H, Kakita A, Imagawa E, Shiina M, Ogata K, Okuno-Yuguchi J, Fueki N, Ogiso Y, Suzumura H, Watabe Y, Imataka G, Leong HY, Fattal-Valevski A, Kramer U, Miyatake S, Kato M, Okamoto N, Sato Y, Mitsuhashi S, Nishino I, Kaneko N, Nishiyama A, Tamura T, Mizuguchi T, Nakashima M, Tanaka F, Saitsu H, Matsumoto N
Title
Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative Encephalopathy.
