[Adult onset hereditary leukoencephalopathies].
In clinical practice, the term "genetic leukoencephalopathy" refers to a group of genetic diseases whose common point is to give an aspect of diffuse leukoencephalopathy on MRI. With progress in diagnostic techniques including radiology, biochemistry or genetics, a large number of hereditary diseases causing leukoencephalopathy have been identified. Although generally beginning in childhood, these diseases often have more insidious clinical forms which can begin in adulthood. These forms remain poorly known. Some are accessible to treatment so their diagnosis appears essential. The diagnostic steps must be guided by clinical examination (neurological, ophthalmological and systemic), electromyography and MRI. The purpose of this review is to propose a classification of the genetic leukoencephalopathies and to give a progress report applicable in neurological practice.
Sedel
F
F
Fédération des Maladies du Système Nerveux, Groupe Hospitalier Pitié-Salpêtrière, Paris. frederic.sedel@psl.ap-hop-paris.fr
Tourbah
A
A
Baumann
N
N
Fontaine
B
B
Aubourg
P
P
Lubetzki
C
C
Lyon-Caen
O
O
D017668:Age of Onset; D001927:Brain Diseases / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism*; D003711:Demyelinating Diseases / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism*; D006801:Humans; D009154:Mutation