A5073664937- Genetic Neurodegenerative Diseases
- Mitochondrial Function and Pathology
- Genomics and Rare Diseases
- DNA Repair Mechanisms
- Vestibular and auditory disorders
- RNA regulation and disease
- Metabolism and Genetic Disorders
- Cerebrovascular and genetic disorders
- Lymphoma Diagnosis and Treatment
- Neuroscience of respiration and sleep
- Autoimmune Neurological Disorders and Treatments
- Hereditary Neurological Disorders
- Neurological diseases and metabolism
- Attention Deficit Hyperactivity Disorder
- Chronic Lymphocytic Leukemia Research
- Genetics and Neurodevelopmental Disorders
- Acute Myeloid Leukemia Research
Skåne University Hospital
2017-2024
Lund University
2017-2024
University of Oulu
2017
Autosomal-dominant ataxia with sensory and autonomic neuropathy is a highly specific combined phenotype that we described in two Swedish kindreds 2014; its genetic cause had remained unknown. Here, report the discovery of exonic GGC trinucleotide repeat expansions, encoding poly-glycine, zinc finger homeobox 3 (ZFHX3) these families. The expansions were identified whole-genome datasets within genomic segments all affected family members shared. Non-expanded alleles carried one or more...
Clinical trials in spinocerebellar ataxia type 3 (SCA3) will require biomarkers for use as outcome measures.To evaluate total tau (t-tau), glial fibrillary acidic protein (GFAP), ubiquitin carboxy-terminal hydrolase L1 (UCHL1) and neurofilament light-chain (NfL) fluid SCA3, ATXN3 mutation carriers (n = 143) controls 172) were clinically assessed, the plasma concentrations of four proteins analysed on Simoa HD-1 platform. Eleven carrier cerebrospinal samples t-tau phosphorylated (p-tau181 )....
PolyQ ATXN3 is a pharmacodynamic marker for SCA3, and SNP associated with the expanded allele may serve to specifically target mutant .
<h3>Objective:</h3> We describe the neurologic, neuroradiologic, and ophthalmologic phenotype of 1 Swedish Finnish family with autosomal dominant ataxia-pancytopenia (ATXPC) syndrome <i>SAMD9L</i> mutations. <h3>Methods:</h3> Members these families germline c.2956C>T, p.Arg986Cys, or c.2672T>C, p.Ile891Thr mutations underwent structured interviews neurologic examinations. Neuroimaging was performed, medical records were reviewed. Previous publications on <i>SAMD9L</i>-ATXPC...
Abstract Hereditary ataxia represents a heterogeneous group of rare disorders with the chronic progression motor symptoms that often become debilitating. Many forms include additional neurological, cognitive, or other symptoms. Most these lack specific treatment. We aimed to investigate aspects patients’ quality life, experiences, and expectations. Patients diagnosis hereditary were identified from our center’s diagnostic register, direct referrals, patient organization. designed...
Abstract Hereditary ataxia is a heterogeneous group of complex neurological disorders. Next-generation sequencing methods have become great help in clinical diagnostics, but it may remain challenging to determine if genetic variant the cause patient’s disease. We compiled consecutive single-center series 87 patients from 76 families with progressive known or unknown etiology. investigated them clinically and genetically using whole exome genome sequencing. Test were selected depending on...