{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,12]],"date-time":"2026-07-12T19:09:28Z","timestamp":1783883368936,"version":"3.55.0"},"reference-count":41,"publisher":"MDPI AG","issue":"9","license":[{"start":{"date-parts":[[2023,9,10]],"date-time":"2023-09-10T00:00:00Z","timestamp":1694304000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"National Science Centre Poland","award":["2018\/29\/B\/NZ5\/00330."],"award-info":[{"award-number":["2018\/29\/B\/NZ5\/00330."]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Bardet\u2013Biedl syndrome (BBS) and Alstr\u00f6m syndrome (ALMS) are rare multisystem diseases with an autosomal recessive mode of inheritance and genetic heterogeneity, characterized by visual impairment, hearing impairment, cardiomyopathy, childhood obesity, and insulin resistance. The purpose of our study was to evaluate the indicators of nervous system changes occurring in patients with ALMS and BBS using optical coherence tomography (OCT) and magnetic resonance spectroscopy (MRS) methods compared to a group of healthy subjects. The OCT results showed significantly lower macular thickness in the patient group compared to the control group (p = 0.002). The MRS study observed differences in metabolite levels between the study and control groups in brain areas such as the cerebellum, thalamus, and white matter. After summing the concentrations from all areas, statistically significant results were obtained for N-acetylaspartate, total N-acetylaspartate, and total creatine. Concentrations of these metabolites were reduced in ALMS\/BBS patients by 38% (p = 0.0004), 35% (p = 0.0008), and 28% (p = 0.0005), respectively. Our results may help to understand the pathophysiology of these rare diseases and identify strategies for new therapies.<\/jats:p>","DOI":"10.3390\/genes14091784","type":"journal-article","created":{"date-parts":[[2023,9,11]],"date-time":"2023-09-11T09:00:52Z","timestamp":1694422852000},"page":"1784","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Searching for Effective Methods of Diagnosing Nervous System Lesions in Patients with Alstr\u00f6m and Bardet\u2013Biedl Syndromes"],"prefix":"10.3390","volume":"14","author":[{"given":"Arleta","family":"Waszczykowska","sequence":"first","affiliation":[{"name":"Department of Ophthalmology, Medical University of Lodz, 90-419 Lodz, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Krzysztof","family":"Jeziorny","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolic Diseases, Polish Mother\u2019s Memorial Hospital Research Institute (PMMHRI), 93-338 Lodz, Poland"},{"name":"Department of Pediatric Endocrinology, Medical University of Lodz, 90-419 Lodz, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dobromi\u0142a","family":"Bara\u0144ska","sequence":"additional","affiliation":[{"name":"Department of Diagnostic Imaging, Polish Mother\u2019s Memorial Hospital Research Institute (PMMHRI), 93-338 Lodz, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katarzyna","family":"Matera","sequence":"additional","affiliation":[{"name":"Department of Diagnostic Imaging, Polish Mother\u2019s Memorial Hospital Research Institute (PMMHRI), 93-338 Lodz, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aleksandra","family":"Pyziak-Skupien","sequence":"additional","affiliation":[{"name":"Department of Children\u2019s Diabetology, Silesian Medical University in Katowice, 40-752 Katowice, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3729-0518","authenticated-orcid":false,"given":"Micha\u0142","family":"Ciborowski","sequence":"additional","affiliation":[{"name":"Clinical Research Centre, Medical University of Bialystok, 15-276 Bialystok, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8781-4469","authenticated-orcid":false,"given":"Agnieszka","family":"Zmys\u0142owska","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Medical University of Lodz, 90-419 Lodz, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,9,10]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"854","DOI":"10.1016\/j.devcel.2008.11.001","article-title":"A BBSome subunit links ciliogenesis, microtubule stability, and acetylation","volume":"15","author":"Loktev","year":"2008","journal-title":"Dev. 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