BACKGROUND: A new leukoencephalopathy with brainstem and spinal cord involvement and high brain lactate was recently defined. The authors describe five new patients with this entity. METHODS: Brain MRI was performed in all patients and spinal MRI and proton magnetic resonance spectroscopy (1H-MRS) in four patients. Laboratory examinations ruled out classic leukodystrophies. RESULTS: MRI showed signal abnormalities in the periventricular and deep white matter, in the pyramidal tracts, mesencephalic trigeminal tracts, in the cerebellar connections, and in dorsal columns of the spinal cord. MRS showed decreased N-acetylaspartate and increased lactate in the white matter of all patients. In one patient choline-containing compounds were elevated. A slowly progressive sensory ataxia and tremor manifested at the age of 3 to 16 years and distal spasticity in adolescence. One 13-year-old patient was asymptomatic. CONCLUSIONS: A slowly progressive sensory ataxia is a typical feature in this new leukodystrophy. MRS favors a primary axonal degeneration.
BACKGROUND: A new leukoencephalopathy with brainstem and spinal cord involvement and high brain lactate was recently defined. The authors describe five new patients with this entity. METHODS: Brain MRI was performed in all patients and spinal MRI and proton magnetic resonance spectroscopy (1H-MRS) in four patients. Laboratory examinations ruled out classic leukodystrophies. RESULTS: MRI showed signal abnormalities in the periventricular and deep white matter, in the pyramidal tracts, mesencephalic trigeminal tracts, in the cerebellar connections, and in dorsal columns of the spinal cord. MRS showed decreased N-acetylaspartate and increased lactate in the white matter of all patients. In one patientcholine-containing compounds were elevated. A slowly progressive sensory ataxia and tremor manifested at the age of 3 to 16 years and distal spasticity in adolescence. One 13-year-old patient was asymptomatic. CONCLUSIONS: A slowly progressive sensory ataxia is a typical feature in this new leukodystrophy. MRS favors a primary axonal degeneration.
Authors: G C Petzold; G Bohner; R Klingebiel; N Amberger; M S van der Knaap; R Zschenderlein Journal: J Neurol Neurosurg Psychiatry Date: 2006-07 Impact factor: 10.154
Authors: Danielle Eckart Sorte; Andrea Poretti; Scott D Newsome; Eugen Boltshauser; Thierry A G M Huisman; Izlem Izbudak Journal: Pediatr Radiol Date: 2015-01-31
Authors: Charalampos Tzoulis; Gia Tuong Tran; Ivar Otto Gjerde; Jan Aasly; Gesche Neckelmann; Jana Rydland; Viktoria Varga; Pia Wadel-Andersen; Laurence A Bindoff Journal: J Neurol Date: 2011-07-27 Impact factor: 4.849