Results 51 to 60 of about 265 (124)

Screening Tool Improves Recognition of Movement Disorders by Internists and Paediatricians in Patients With Inherited Metabolic Diseases

Journal of Inherited Metabolic Disease, Volume 48, Issue 6, November 2025.
ABSTRACT Movement disorders are common in inherited metabolic diseases (IMDs) and significantly impact quality of life. Unfortunately, they are often underrecognised by metabolic physicians. This study investigated whether a new screening tool improves recognition of movement disorders in IMD patients by non‐neurologists.
Ellen M. Hulshof, Hugo P. Lantinga, Gonnie Alkemade, Annet M. Bosch, Marion M. Brands, Danique Draaisma‐van Vliet, Andrea B. Haijer‐Schreuder, Eva M. M. Hoytema van Konijnenburg, Mirian C. H. Janssen, Melanie M. van der Klauw, Mirjam Langeveld, Charlotte M. A. Lubout, Sonja L. van Ockenburg, Esmeralda Oussoren, Bianca Panis, Barbara Sjouke, Maaike de Vries, Margreet A. E. M. Wagenmakers, Mark Wijnen, Deborah A. Sival, Marina A. J. Tijssen, Tom J. de Koning, Lisette H. Koens   +22 more
wiley   +1 more source

CURE ID: A Platform to Collect Real‐World Treatment Data for Drug Repurposing in Rare Genetic Disorders

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, Volume 199, Issue 3, Page 189-193, September 2025.
ABSTRACT Rare diseases collectively affect millions of Americans, but less than 5% have approved treatments, and new drug development remains limited. For such diseases, drug repurposing may be an effective strategy to find new treatment options. In the rare genetic disorder community, drugs are frequently prescribed off‐label.
Tahsin Farid, Maura R. Z. Ruzhnikov, Mili Duggal, Keyla C. Tumas, Shira Strongin, Eric Sid, Sarah R. Fuchs, Leonard Sacks, Dominique C. Pichard, Catherine Pilgrim‐Grayson, Ewy A. Mathé, Heather A. Stone   +11 more
wiley   +1 more source

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  

Autosomal Recessive Cerebellar Ataxias: Translating Genes to Therapies

Annals of Neurology, Volume 98, Issue 3, Page 448-470, September 2025.
[Color figure can be viewed at www.annalsofneurology.org] Autosomal recessive cerebellar ataxias are disabling neurodegenerative genetic conditions affecting balance and coordination. Advancements in genomic testing have improved diagnosis, leading to a new focus on the development of targeted precision therapeutics addressing cellular, biochemical ...
Brent L. Fogel, Thomas Klopstock, David R. Lynch, Francesca Maltecca, Mayank Verma, Berge A. Minassian, Frances M. Platt, Débora Farina Gonçalves, Hélène Puccio, Andreas Roos, Matthis Synofzik   +10 more
wiley   +1 more source

Treatment of Inborn Errors by Product Replacement: The Example of Inborn Errors of Bile Acid Synthesis

Journal of Inherited Metabolic Disease, Volume 48, Issue 5, September 2025.
ABSTRACT Many inborn errors of metabolism affect pathways involved in the synthesis of a metabolite that has an important biochemical or physiological function, and adverse effects of the disorder can be attributed to the lack of this metabolite. Thus, there is the opportunity for treatment by ‘product replacement’. One of the disorders in the pathways
Peter T. Clayton, Rohit Hirachan, Elaine Murphy   +2 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

Never Late: Cerebrotendinous Xanthomatosis and Improvements in Neurocognitive Functions in an Adult Patient on Chenodeoxycholic Acid Treatment

Clinical Genetics, Volume 108, Issue 3, Page 363-368, September 2025.
Cerebrotendinous xanthomatosis is due to biallelic pathogenic variants in CYP27A1. We report a new patient and his good neurocognitive outcome on the chenodeoxycholic acid treatment despite therapy starting at the age of 34 years. This highlights the importance of recognizing treatable inherited metabolic diseases at any age.
Randa Sultan, Marta Villa‐Lopez, Clara Hung, Morganne McCabe, Oksana Suchowersky, Jordan Urlacher, Saadet Mercimek‐Andrews   +6 more
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

Alternative pre-mRNA splicing of the sterol 27-hydroxylase gene (CYP 27) caused by a G to A mutation at the last nucleotide of exon 6 in a patient with cerebrotendinous xanthomatosis (CTX)

Journal of Lipid Research, 1998
A recently identified G to A mutation at the last nucleotide of exon 6 of the sterol 27-hydroxylase gene (CYP 27) in a patient with cerebrotendinous xanthomatosis (CTX) was shown here to cause alternative pre-mRNA splicing of the gene.
Wengen Chen, Shunichiro Kubota, Yousuke Seyama   +2 more
doaj   +1 more source