Infectious diseases Coordinating Panel on Rare Neurological Diseases

Nodding syndrome proved to be a tauopathy

Nodding syndrome (NS) is a neurologic disorder of unknown cause that affects children in the subsistence-farming communities of East Africa. Researchers have proposed causes for NS that include malnutrition, parasites, and viruses, but..

Nodding syndrome (NS) is a neurologic disorder of unknown cause that affects children in the subsistence-farming communities of East Africa. Researchers have proposed causes for NS that include malnutrition, parasites, and viruses, but have not proved a clear link to any of them. NS is characterized by stereotypical head dropping movements, cognitive impairment, impaired growth, and seizures. The age of onset is usually 5-15 years of age. NS has been documented in the Republic of South Sudan and Tanzania; also it is a major health problem in the villages of northern Uganda. Over 3000 NS-affected children have been documented in northern Uganda. Neurologic deterioration and death are often reported. Recently, the neuropathologic findings in five fatal cases (13-18 years of age at death) of NS have been reported. Neuropathologic examination revealed tau-immunoreactive neuronal neurofibrillary tangles, pre-tangles, neuropil threads, and dot-like lesions involving the cerebral cortex, subcortical nuclei and brainstem. There was preferential involvement of the frontal and temporal lobes. The mesencephalopontine tegmental nuclei, substantia nigra, and locus coeruleus revealed globose neurofibrillary tangles and threads. Researchers conclude that nodding syndrome is a tauopathy. Since the distribution and cellular pathology in NS does not precisely match any other known tauopathy, NS may represent a newly recognized neurodegenerative disease. The discovery that NS is a tauopathy may facilitate determining the cause of NS.

 

references:

1. Pollanen MS, Onzivua S, Robertson J, McKeever PM, Olawa F, Kitara DL, Fong A. Nodding syndrome in Uganda is a tauopathy. Acta Neuropathol. 2018 Nov;136(5). https://www.ncbi.nlm.nih.gov/pubmed/30219940

2. Spinney L. Link to Alzheimer's seen in nodding syndrome. Science. 2018 Dec 21;362(6421). https://www.ncbi.nlm.nih.gov/pubmed/30573607