Results 91 to 100 of about 3,665 (213)

Cerebrotendinous Xanthomatosis In A Family

Indian Journal of Dermatology, 1999
A family consisting of a brother (11 years) and his twin sisters (13 years) with cerebrotendinous xanthomatosis is presented. The brother had bilateral achilles tendon xanthoma, low intelligence, poor memory with early cerebellar signs.
Chatterjee Gobinda, Chakraborty Indranil, Kanti Das Tushar, Datta Chhanda   +3 more
doaj  

Case of cerebrotendinous xanthomatosis with giant xanthomas and literature review [PDF]

, 2023
Sinan Eliaçık, Gülsüm Çil
openalex   +1 more source

Investigating ITM2B‐associated ataxia in a Taiwanese cerebellar ataxia cohort

Annals of Clinical and Translational Neurology, Volume 12, Issue 1, Page 158-168, January 2025.
Abstract Objective The genetic causes of a significant number of patients with cerebellar ataxia remain unsolved. Variations in the ITM2B gene, typically linked to dominantly inherited dementia, can sometimes present with cerebellar ataxia as an early symptom.
Shih‐Yu Fang, Cheng‐Tsung Hsiao, Kang‐Yang Jih, Yu‐Sheun Tsai, Kuan‐Lin Lai, Cheng‐Ta Chou, Yi‐Chu Liao, Yi‐Chung Lee   +7 more
wiley   +1 more source

Clinical and genetic characteristics of Chinese patients with cerebrotendinous xanthomatosis

Orphanet Journal of Rare Diseases, 2019
Background Cerebrotendinous xanthomatosis (CTX) is a rare inborn lipid-storage disease caused by mutations in the sterol 27-hydroxylase (CYP27A1) gene with an autosomal recessive pattern of inheritance. To date, only 19 CTX patients from 16 families have
Qing-Qing Tao, Yun Zhang, Hui-Xia Lin, Hai-Lin Dong, Wang Ni, Zhi-Ying Wu   +5 more
doaj   +1 more source

Induced pluripotent stem cells (iPSCs) derived from cerebrotendinous xanthomatosis (CTX) patient's fibroblasts carrying a R395S mutation

Stem Cell Research, 2016
Induced pluripotent stem cells (iPSCs) were generated from dermal fibroblasts from a 60-year-old cerebrotendinous xanthomatosis (CTX) patient, carrying a homozygous mutation c. [1183C>A]; p. R395S in CYP27A1.
Philip Höflinger, Stefan Hauser, Yvonne Theurer, Stefanie Weißenberger, Carlo Wilke, Ludger Schöls   +5 more
doaj   +1 more source

What can pediatricians learn from adult inherited metabolic diseases?

Journal of Inherited Metabolic Disease, Volume 47, Issue 5, Page 876-884, September 2024.
Abstract The field of inherited metabolic diseases (IMD) has initially emerged and developed over decades in pediatric departments. Still, today, about 50% of patients with IMD are adults, and adult metabolic medicine (AMM) is getting more structured at national and international levels.
Fanny Mochel
wiley   +1 more source

Fine-mapping, mutation analyses, and structural mapping of cerebrotendinous xanthomatosis in U.S. pedigrees

Journal of Lipid Research, 2001
Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder of bile acid biosynthesis. Clinically, CTX patients present with tendon xanthomas, juvenile cataracts, and progressive neurological dysfunction and can be diagnosed by the ...
Mi-Hye Lee, Starr Hazard, John D. Carpten, Sonia Yi, Jonathan Cohen, Glenn T. Gerhardt, Gerald Salen, Shailendra B. Patel   +7 more
doaj   +1 more source

DYSKINESIAS IN A PATIENT WITH CEREBROTENDINOUS XANTHOMATOSIS

, 2023
Isabel, Maria Eduarda de Souza Arêa Leão, Bruna Tavares Falcão, Jonas Leite de Souza Filho, Hitalo Roberto de Araujo Coêlho, JOANA CLARA OLIVEIRA MACEDO LIMA, Samuel de Castro Campos, Sabrina Ruthiele Santos de Carvalho, Thaís de Negreiros Neves, Ocílio de Deus da Rocha Ribeiro Gonçalves, Carlos Eduardo Cordeiro Cavalcante, Kelson James da Silva Almeida   +11 more
openalex   +2 more sources

Imaging of adult leukodystrophies [PDF]

, 2014
Leukodystrophies are genetically determined white matter disorders. Even though leukodystrophies essentially affect children in early infancy and childhood, these disorders may affect adults.
Abdelhalim AN, Anderson Rodrigues Brandão, Balbi P, Bock V, Bugiani M, Chabriat H, Chebel S, Claudia Costa Leite, Coffeen CM, Costello DJ, Debs R, Eichler F, Federico A, Fernando Kok, Finnsson J, Fukutake T, Germana Titoneli Santos, Gleselmann V, Itoh N, Kilic SA, Klünemann HH, Köhler W, Leandro Tavares Lucato, Lyon G, Martin A, Mauricio Castillo, Melberg A, Moser HW, Namekawa Y, Pareyson D, Pudhiavan A, Raymond GV, Sasaki A, Sawaishi Y, Schiffmann R, Schiffmann R, Sedel F, Wider C   +37 more
core   +3 more sources

CEREBROTENDINOUS XANTHOMATOSIS: HEARD OF IT? [PDF]

, 2015
Cerebrotendinous Xanthomatosis (CTX) is a rare, autosomal recessive, lipid storage disorder, characterized by the accumulation of cholesterol and cholestanol, predominantly in the brain, spinal cord, peripheral nerves, tendons, lungs, liver, and kidneys.
Nair, Rajesh Parameshwaran, Nayal, Bhavna, Sankalp   +2 more
core   +1 more source