1. A 50-year-old man with progressive dysautonomia and leg stiffness
Teaching NeuroImages
Neurology
Resident and Fellow Section
© 2014 American Academy of Neurology

2. Vignette Five-year history of genito-urinary dysautonomia
Recent complain of leg stiffness
Negative family history
Neurological examination: mild spastic paraparesis
MRI studies: peculiar white matter changes in the brain; spinal cord atrophy
Electroneurography, CSF and blood/urine metabolic studies: normal.
Brunetti et al.
© 2014 American Academy of Neurology

3. Imaging A B C Brunetti et al.
Fluid-attenuated inversion recovery sequences (FLAIR) shows symmetric hyperintense signals involving the deep white matter of both hemispheres with relative sparing of the periventricular regions (A, arrows) and hyperintensity of cerebellar peduncles and pontine nuclei (B, arrows). Also, T1 weighted images show diffuse spinal cord atrophy (C).
Brunetti et al.
© 2014 American Academy of Neurology

4. Teaching neuroimages: Autosomal dominant leukodystrophy (ADLD) in a sporadic case.
Molecular testing: duplication of LMNB1, confirming the diagnosis of ADLD
ADLD is a rare adult-onset leukodystrophy with early presentation of dysautonomia preceding cerebellar and pyramidal signs.
MRI is the best imaging technique to diagnose ADLD, showing an unusual pattern of leukodystrophy
References
1)Lin ST, Ptácek LJ, Fu YH. Adult-onset autosomal dominant leukodystrophy: linking nuclear envelope to myelin. J Neurosci Jan 26;31(4):
2) Padiath QS , Saigoh K ,Schiffmann R, Asahara H, Yamada T, Koeppen A, Hogan K, Ptàcek LJ, FuYH Lamin B1 duplications cause autosomal dominant leukodystrophy Nat Genet Oct;38(10):
Brunetti et al.
© 2014 American Academy of Neurology