"Properties of Afferent Connections to the Rostral Spinocerebellar Tract in the Cat". Acta Physiologica Scandinavica. 64 (1–2): 143–153. doi:10.1111/j.1748-1716.1965.tb04163.x. PMID 14347272. External links
hier-804 at NeuroNames
hier-805 at NeuroNames
hier-793 at NeuroNames - dorsal external arcuate fibers
hier-800 at NeuroNames - cuneocerebellar tract
Anatomyatlases Plate17327
NIF Search - Anterior Spinocerebellar Tract via the Neuroscience Information Framework
Several mutations were found in the protein O-Mannosyltransferase POMT1 and POMT2 genes, and one mutation was found in each of the fukutin and fukutin-related protein genes. Another gene that has been linked to this condition is Beta-1,3-N-acetylgalactosaminyltransferase 2 (B3GALNT2). Diagnosis
Laboratory investigations usually show elevated creatine kinase, myopathic/dystrophic muscle pathology and altered α-dystroglycan. Antenatal diagnosis is possible in families with known mutations. Prenatal ultrasound may be helpful for diagnosis in families where the molecular defect is unknown. Prognosis
No specific treatment is available. Management is only supportive and preventive. Those who are diagnosed with the disease often die within the first few months of life. Almost all children with the disease die by the age of three. Eponym
WWS is named for Arthur Earl Walker and Mette Warburg (1926-2015), a Danish ophthalmologist. Its alternative names include Chemke’s syndrome and Pagon’s syndrome, named after Juan M. Chemke and Roberta A. Pagon. References
Further reading
HARD syndrome; Walker–Warburg syndrome; Chemke syndrome; COD (cerebroocular dysgenesis) at NIHs Office of Rare Diseases


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