Adult-onset autosomal dominant leukodystrophy with autonomic symptoms (ADLD): investigations
Evidence-based neurology checklist on adult-onset autosomal dominant leukodystrophy with autonomic symptoms (adld): investigations: Magnetic resonance imaging (MRI): features Increased white matter signal intensity: frontoparietal, cerebellar peduncles, and spinal cord Atrophy: cerebral and spinal…
Magnetic resonance imaging (MRI): features
- Increased white matter signal intensity: frontoparietal, cerebellar peduncles, and spinal cord
- Atrophy: cerebral and spinal cord
Positron emission tomography (PET) scan
Management
References
- Melberg A, Hallberg L, Kalimo H, Raininko R. MR characteristics and neuropathology in adult-onset autosomal dominant leukodystrophy with autonomic symptoms. Am J Neuroradiol 2006; 27:904-911.
- Sundblom J, Melberg A, Kalimo H, Smits A, Raininko R. MR imaging characteristics and neuropathology of the spinal cord in adult-onset autosomal dominant leukodystrophy with autonomic symptoms. Am J Neuroradiol 2009; 30:328-335.
- Schuster J, Sundblom J, Thuresson AC, et al. Genomic duplications mediate overexpression of lamin B1 in adult-onset autosomal dominant leukodystrophy (ADLD) with autonomic symptoms. Neurogenetics 2011; 12:65-72.
- Sandoval-Rodríguez V, Cansino-Torres MA, Sáenz-Farret M, Castañeda-Cisneros G, Moreno G, Zúñiga-Ramírez C. Autosomal dominant leukodystrophy presenting as Alzheimer's-type dementia. Mult Scler Relat Disord 2017; 17:230-233.
- Finnsson J, Lubberink M, Savitcheva I, et al. Glucose metabolism in the brain in LMNB1-related autosomal dominant leukodystrophy. Acta Neurol Scand 2018; doi: 10.1111/ane.13024 (Epub ahead of print).
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