Motor neuron disease: biomarker development for an expanding cerebral syndrome
Descriptions of motor neuron disease (MND) documented more than a century ago remain instantly recognisable to the physician. The muscle weakness, typically with signs of upper and lower motor neuron dysfunction, is uniquely relentless. Over the last 30 years, a wider cerebral pathology has emerged,...
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| Format: | Journal article |
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Royal College of Physicians
2016
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| _version_ | 1797058949315297280 |
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| author | Turner, M |
| author_facet | Turner, M |
| author_sort | Turner, M |
| collection | OXFORD |
| description | Descriptions of motor neuron disease (MND) documented more than a century ago remain instantly recognisable to the physician. The muscle weakness, typically with signs of upper and lower motor neuron dysfunction, is uniquely relentless. Over the last 30 years, a wider cerebral pathology has emerged, despite the lack of overt cognitive impairment in the majority of patients. From the initial linkage of a small number of cases to mutations in SOD1, diverse cellular pathways have been implicated in pathogenesis. An increasingly complex clinical heterogeneity has emerged around a significant variability in survival. Defining a cellular signature of aggregated TDP-43 common to nearly all MND and a large proportion of frontotemporal dementia (FTD), has placed MND alongside the traditional cerebral neurodegeneration. With new genetic causes, most notably a hexanucleotide expansion in C9orf72 associated with both MND and FTD, the development of biomarkers against which to test therapeutic candidates is a priority. |
| first_indexed | 2024-03-06T19:57:18Z |
| format | Journal article |
| id | oxford-uuid:260f6fd4-73ed-4d79-9c1f-f708b0cfe946 |
| institution | University of Oxford |
| last_indexed | 2024-03-06T19:57:18Z |
| publishDate | 2016 |
| publisher | Royal College of Physicians |
| record_format | dspace |
| spelling | oxford-uuid:260f6fd4-73ed-4d79-9c1f-f708b0cfe9462022-03-26T11:58:56ZMotor neuron disease: biomarker development for an expanding cerebral syndromeJournal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:260f6fd4-73ed-4d79-9c1f-f708b0cfe946Symplectic Elements at OxfordRoyal College of Physicians2016Turner, MDescriptions of motor neuron disease (MND) documented more than a century ago remain instantly recognisable to the physician. The muscle weakness, typically with signs of upper and lower motor neuron dysfunction, is uniquely relentless. Over the last 30 years, a wider cerebral pathology has emerged, despite the lack of overt cognitive impairment in the majority of patients. From the initial linkage of a small number of cases to mutations in SOD1, diverse cellular pathways have been implicated in pathogenesis. An increasingly complex clinical heterogeneity has emerged around a significant variability in survival. Defining a cellular signature of aggregated TDP-43 common to nearly all MND and a large proportion of frontotemporal dementia (FTD), has placed MND alongside the traditional cerebral neurodegeneration. With new genetic causes, most notably a hexanucleotide expansion in C9orf72 associated with both MND and FTD, the development of biomarkers against which to test therapeutic candidates is a priority. |
| spellingShingle | Turner, M Motor neuron disease: biomarker development for an expanding cerebral syndrome |
| title | Motor neuron disease: biomarker development for an expanding cerebral syndrome |
| title_full | Motor neuron disease: biomarker development for an expanding cerebral syndrome |
| title_fullStr | Motor neuron disease: biomarker development for an expanding cerebral syndrome |
| title_full_unstemmed | Motor neuron disease: biomarker development for an expanding cerebral syndrome |
| title_short | Motor neuron disease: biomarker development for an expanding cerebral syndrome |
| title_sort | motor neuron disease biomarker development for an expanding cerebral syndrome |
| work_keys_str_mv | AT turnerm motorneurondiseasebiomarkerdevelopmentforanexpandingcerebralsyndrome |