We provide summary tables to use as a check list of clinical and neuroimaging findings that are most commonly associated with these forms of leukoencephalopathies. When present, we reported specific characteristics of single diseases. Several genetic diseases may be suspected in patients with middle or old age and white matter abnormalities. In only few instances, pathognomonic clinical or associated neuroimaging features help identifying a specific disease. Therefore, a comprehensive knowledge of the characteristics of these inherited white matter diseases appears important to improve the diagnostic work-up, optimize the choice of genetic tests, increase the number of diagnosed patients, and stimulate the research interest in this field.

Inherited leukoencephalopathies with clinical onset in middle and old age / Nannucci, Serena; Donnini, Ida; Pantoni, Leonardo. - In: JOURNAL OF THE NEUROLOGICAL SCIENCES. - ISSN 0022-510X. - ELETTRONICO. - 347:(2014), pp. 1-13. [10.1016/j.jns.2014.09.020]

Inherited leukoencephalopathies with clinical onset in middle and old age

NANNUCCI, SERENA;DONNINI, IDA;PANTONI, LEONARDO
2014

Abstract

We provide summary tables to use as a check list of clinical and neuroimaging findings that are most commonly associated with these forms of leukoencephalopathies. When present, we reported specific characteristics of single diseases. Several genetic diseases may be suspected in patients with middle or old age and white matter abnormalities. In only few instances, pathognomonic clinical or associated neuroimaging features help identifying a specific disease. Therefore, a comprehensive knowledge of the characteristics of these inherited white matter diseases appears important to improve the diagnostic work-up, optimize the choice of genetic tests, increase the number of diagnosed patients, and stimulate the research interest in this field.
2014
347
1
13
Nannucci, Serena; Donnini, Ida; Pantoni, Leonardo
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Utilizza questo identificatore per citare o creare un link a questa risorsa: https://hdl.handle.net/2158/1019688
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