Inherited leukoencephalopathies with clinical onset in middle and old age

Journal of the Neurological Sciences
S NannucciL Pantoni

Abstract

The currently widespread use of neuroimaging has led neurologists to often face the problem of the differential diagnosis of white matter diseases. There are various forms of leukoencephalopathies (vascular, inflammatory and immunomediated, infectious, metabolic, neoplastic) and sometimes white matter lesions are expression of a genetic disease. While many inherited leukoencephalopathies fall in the child neurologist's interest, others may have a delayed or even a typical onset in the middle or old age. This field is rapidly growing and, in the last few years, many new inherited white matter diseases have been described and genetically defined. A non-delayed recognition of middle and old age inherited leukoencephalopathies appears important to avoid unnecessary tests and therapies in the patient and to possibly anticipate the diagnosis in relatives. The aim of this review is to provide a guide to direct the diagnostic process when facing a patient with a suspicion of an inherited form of leukoencephalopathy and with clinical onset in middle or old age. Based on a MEDLINE search from 1990 to 2013, we identified 24 middle and old age onset inherited leukoencephalopathies and reviewed in this relation the most recent findings focu...Continue Reading

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Citations

Dec 5, 2017·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·Camilla FerrariSandro Sorbi

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Brain
Magnetization Transfer Contrast Imaging
Late Onset Disorders
Childhood Ataxia With Central Nervous System Hypomyelinization
Imaging of Brain
Differential Diagnosis
Hereditary Diseases
Neoplasms
Research
Suspicion

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