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Lancet neurology, 2019-12, Vol.18 (12), p.1136-1146
2019
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Details
- Autor(en) / Beteiligte
- Titel
- Hereditary spastic paraplegia: from diagnosis to emerging therapeutic approaches
- Ist Teil von
- Lancet neurology, 2019-12, Vol.18 (12), p.1136-1146
- Ort / Verlag
- England: Elsevier Ltd
- Erscheinungsjahr
- 2019
- Quelle
- MEDLINE
- Beschreibungen/Notizen
- Hereditary spastic paraplegia (HSP) describes a heterogeneous group of genetic neurodegenerative diseases characterised by progressive spasticity of the lower limbs. The pathogenic mechanism, associated clinical features, and imaging abnormalities vary substantially according to the affected gene and differentiating HSP from other genetic diseases associated with spasticity can be challenging. Next generation sequencing-based gene panels are now widely available but have limitations and a molecular diagnosis is not made in most suspected cases. Symptomatic management continues to evolve but with a greater understanding of the pathophysiological basis of individual HSP subtypes there are emerging opportunities to provide targeted molecular therapies and personalised medicine.
- Sprache
- Englisch
- Identifikatoren
- ISSN: 1474-4422eISSN: 1474-4465DOI: 10.1016/S1474-4422(19)30235-2Titel-ID: cdi_proquest_miscellaneous_2268575739
- Format
- –
- Schlagworte
- Alzheimer's disease, Amino acids, Amyotrophic lateral sclerosis, Ataxia, Bladder, Clinical medicine, Cognitive ability, Diagnosis, Family medical history, Genes, Genetic Predisposition to Disease - genetics, Genetic Therapy - methods, Genetic Therapy - trends, Hereditary spastic paraplegia, High-Throughput Nucleotide Sequencing - methods, High-Throughput Nucleotide Sequencing - trends, Homocysteine, Humans, Medical diagnosis, Medical imaging, Metabolism, Mutation, Mutation - genetics, Neurodegeneration, Neurodegenerative diseases, Next-generation sequencing, Paralysis, Precision medicine, Precision Medicine - methods, Precision Medicine - trends, Spastic Paraplegia, Hereditary - diagnostic imaging, Spastic Paraplegia, Hereditary - genetics, Spastic Paraplegia, Hereditary - therapy, Spasticity