Adult-onset autosomal dominant leukodystrophy with autonomic symptoms (ADLD): clinical features
Evidence-based neurology checklist on adult-onset autosomal dominant leukodystrophy with autonomic symptoms (adld): clinical features: Genetics This is caused by a duplication of the lamin B1 (LMNB1) gene on chromosome 5q The transmission is autosomal dominant The onset age is in the 5th to 6th…
Genetics
- This is caused by a duplication of the lamin B1 (LMNB1) gene on chromosome 5q
- The transmission is autosomal dominant
- The onset age is in the 5th to 6th decade
Autonomic features
Other features
Differential diagnosis
Magnetic resonance imaging (MRI): features
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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