Polyglutamine spinocerebellar ataxias (polyQ SCAs) are a group of neurodegenerative diseases, clinically and genetically heterogeneous, characterized by loss of balance and motor coordination due to dysfunction of the cerebellum and its connections. The diagnosis of each type of polyQ SCA, alongside with genetic tests, includes medical images analysis, and its automation may help specialists to distinguish between each type. Convolutional neural networks (ConvNets or CNNs) have been recently used for medical image processing, with outstanding results. In this work, we present the main clinical and imaging features of polyglutamine SCAs, and the basics of CNNs. Finally, we review studies that have used this approach to automatically process brain medical images and may be applied to SCAs detection. We conclude by discussing the possible limitations and opportunities of using ConvNets for SCAs diagnose in the future.
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http://dx.doi.org/10.1007/s11517-022-02714-w | DOI Listing |
Protein Sci
December 2024
i3S-Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal.
bioRxiv
August 2024
Department of Chemistry, The Herbert Wertheim UF Scripps Institute for Biomedical Innovation & Technology, 130 Scripps Way, Jupiter, FL 33458, USA.
RNA repeat expansions fold into stable structures and cause microsatellite diseases such as Huntington's disease (HD), myotonic dystrophy type 1 (DM1), and spinocerebellar ataxias (SCAs). The trinucleotide expansion of r(CAG), or r(CAG), causes both HD and SCA3, and the RNA's toxicity has been traced to its translation into polyglutamine (polyQ; HD) as well as aberrant pre-mRNA alternative splicing (SCA3 and HD). Previously, a small molecule, , was discovered that binds to r(CAG) and rescues aberrant pre-mRNA splicing in patient-derived fibroblasts by freeing proteins bound to the repeats.
View Article and Find Full Text PDFMol Neurobiol
August 2024
Department of Cell and Molecular Biology, Faculty of Chemistry, University of Kashan, Qutb Rawandi Blvd, Kashan City, Isfahan Province, Iran.
SCA (spinocerebellar ataxia) which is autosomal dominantly transferred is a subset of inherited cerebellar ataxia. These progressive neurological diseases have clinical features of ataxia and are derived from the destruction of the cerebellum. These diseases can also affect other areas, including the brainstem.
View Article and Find Full Text PDFNeurology
September 2024
From the Sorbonne Université (G.C., C.D.-F., E.P., S.S., L.D., P.C., R.K., R.H., H.H., J.-C.L., M.-L.W., P.P., A.B., S.T.d.M., A.D.), Paris Brain Institute, Inserm, CNRS, INRIA, APHP; CATI (C.F., M.C., J.-F.M.), US52-UAR2031, CEA, Paris Brain Institute, Sorbonne Université, CNRS, INSERM, APHP; Sorbonne Université (M.N., I.A.), Inserm, CNRS, Institut de la Vision; Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts (M.N., I.A.), National Rare Disease Center REFERET and INSERM-DGOS CIC 1423; Sorbonne Université (P.G.), Inserm, UMRS1158 Neurophysiologie Respiratoire Expérimentale et Clinique; Sorbonne Université (K.D.), Inserm, Centre d'Immunologie et des Maladies Infectieuses-Paris (CIMI-Paris), France; P3lab (P.D.), Louvain-la-Neuve, Belgique; Clinical Metabolomic Department (A.L.), Assistance Publique-Hôpitaux de Paris, Saint Antoine Hospital, Saint-Antoine Research Center, Sorbonne University, France; Ionis Pharmaceuticals (R.L.), Carlsbad, CA; and Service de Neurophysiologie (B.G.), University Hospital Pitié-Salpêtrière, Paris, France.
Cerebellum
December 2024
State Key Laboratory of Cellular Stress Biology, Fujian Provincial Key Laboratory of Neurodegenerative Disease and Aging Research, Institute of Neuroscience, Department of Neurology, School of Medicine, The First Affiliated Hospital of Xiamen University, Xiamen University, Xiamen, 361005, Fujian, China.
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