Familial, adult onset form of leukoencephalopathy with brain stem and spinal cord involvement: inconstant high brain lactate and very slow disease progression.
نویسندگان
چکیده
CHU de Clermont-Ferrand, INSERM UMR 384, Faculté de Médecine, Université Clermont 1, Clermont-Ferrand , d Centre de Résonance Magnétique Biologique et Médicale, UMR-CNRS 6612, Faculté de Médecine, Université de la Méditerranée, and Hôpital de la Timone, e Service d’Urgences Neuro-vasculaires, CHU Timone, Marseille , f AP-HP, Service de Neuroradiologie, et Inserm UMR 788, CHU de Bicêtre, Le Kremlin-Bicêtre , and g Service de
منابع مشابه
Leukoencephalopathy with brainstem and spinal cord involvement and high brain lactate: report of three Brazilian patients.
A novel leukoencephalopathy was recently identified based on magnetic resonance imaging (MRI) and proton magnetic resonance spectroscopy ((1)H-MRS) findings. Leukoencephalopathy with brainstem and spinal cord involvement and high lactate (LBSL) is an autosomal recessive disorder characterized by early onset of symptoms and slowly progressive cerebellar, pyramidal and spinal cord dorsal column d...
متن کاملDTI in Leukoencephalopathy with Brainstem and Spinal cord involvement and elevated Lactate (LBSL): Local strongly increased FA and reduced diffusivity as well as globally reduced FA and increased diffusivity
Introduction. Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (LBSL) is an inherited white matter disorder first recognized in 2003 by its distinct pattern of MRI abnormalities, including involvement of cerebral white matter, pyramidal and sensory tracts over their entire extent (including the spinal cord), and specific brain stem structures [1]. The diseas...
متن کاملLeukoencephalopathy with brainstem and spinal cord involvement and lactate elevation: clinical and genetic characterization and target for therapy.
Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation is a disorder caused by recessive mutations in the gene DARS2, which encodes mitochondrial aspartyl-tRNA synthetase. Recent observations indicate that the phenotypic range of the disease is much wider than initially thought. Currently, no treatment is available. The aims of our study were (i) to explore a possi...
متن کاملEarly-onset LBSL: how severe does it get?
AIM Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) is known as a relatively mild leukoencephalopathy. We investigated the occurrence of severe variants of LBSL with extensive brain magnetic resonance imaging (MRI) abnormalities. METHOD MRIs of approximately 3,000 patients with an unknown leukoencephalopathy were retrospectively reviewed for extensi...
متن کاملLeukoencephalopathy with brain stem and spinal cord involvement and lactate elevation is associated with cell-type-dependent splicing of mtAspRS mRNA.
LBSL (leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation) is an autosomal recessive white matter disorder with slowly progressive cerebellar ataxia, spasticity and dorsal column dysfunction. Magnetic resonance imaging shows characteristic abnormalities in the cerebral white matter and specific brain stem and spinal cord tracts. LBSL is caused by mutations in t...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید
ثبت ناماگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید
ورودعنوان ژورنال:
- European neurology
دوره 58 1 شماره
صفحات -
تاریخ انتشار 2007