Edgar Chan1,2, Yezen Sammaraiee3, Gargi Banerjee3, Andreas Flores Martin3, Simon Farmer4, Peter Cowley4, Parag Sayal4, Natallia Kharytaniuk3, Perla Eleftheriou5, John Porter5, Natasja van Harskamp6, Lisa Cipolotti6,3, David J Werring3. 1. Department of Neuropsychology, National Hospital for Neurology and Neurosurgery, Queen Square, Box 37, London, WC1N 3BG, UK. edgar.chan1@nhs.net. 2. Department of Brain Repair and Rehabilitation, Stroke Research Centre, UCL Institute of Neurology, National Hospital for Neurology and Neurosurgery, Russell Square House, London, UK. edgar.chan1@nhs.net. 3. Department of Brain Repair and Rehabilitation, Stroke Research Centre, UCL Institute of Neurology, National Hospital for Neurology and Neurosurgery, Russell Square House, London, UK. 4. National Hospital for Neurology and Neurosurgery, Queen Square, London, UK. 5. Department of Haematology, University College London, London, UK. 6. Department of Neuropsychology, National Hospital for Neurology and Neurosurgery, Queen Square, Box 37, London, WC1N 3BG, UK.
Abstract
OBJECTIVE: To define the neuropsychological and neuroimaging characteristics of classical infratentorial superficial siderosis (iSS), a rare but disabling disorder defined by hemosiderin deposition affecting the superficial layers of the cerebellum, brainstem and spinal cord, usually associated with a slowly progressive neurological syndrome of deafness, ataxia and myelopathy. METHODS: We present the detailed neuropsychological and neuroimaging findings in 16 patients with iSS (mean age 57 years; 6 female). RESULTS: Cognitive impairment was present in 8/16 (50%) of patients: executive dysfunction was the most prevalent (44%), followed by impairment of visual recognition memory (27%); other cognitive domains were largely spared. Disease symptom duration was significantly correlated with the number of cognitive domains impaired (r = 0.59, p = 0.011). Mood disorders were also common (anxiety 62%, depression 38%, both 69%) but not associated with disease symptom duration. MRI findings revealed siderosis was not only in infratentorial brain regions, but also in characteristic widespread symmetrical supratentorial brain regions, independent of disease duration and degree of cognitive impairment. The presence of small vessel disease markers was very low and did not account for the cognitive impairment observed. CONCLUSION: Neuropsychological disturbances are common in iSS and need to be routinely investigated. The lack of association between the anatomical extent of hemosiderin and cognitive impairment or disease duration suggests that hemosiderin itself is not directly neurotoxic. Additional biomarkers of iSS disease severity and progression are needed for future research and clinical trials.
OBJECTIVE: To define the neuropsychological and neuroimaging characteristics of classical infratentorial superficial siderosis (iSS), a rare but disabling disorder defined by hemosiderin deposition affecting the superficial layers of the cerebellum, brainstem and spinal cord, usually associated with a slowly progressive neurological syndrome of deafness, ataxia and myelopathy. METHODS: We present the detailed neuropsychological and neuroimaging findings in 16 patients with iSS (mean age 57 years; 6 female). RESULTS:Cognitive impairment was present in 8/16 (50%) of patients: executive dysfunction was the most prevalent (44%), followed by impairment of visual recognition memory (27%); other cognitive domains were largely spared. Disease symptom duration was significantly correlated with the number of cognitive domains impaired (r = 0.59, p = 0.011). Mood disorders were also common (anxiety 62%, depression 38%, both 69%) but not associated with disease symptom duration. MRI findings revealed siderosis was not only in infratentorial brain regions, but also in characteristic widespread symmetrical supratentorial brain regions, independent of disease duration and degree of cognitive impairment. The presence of small vessel disease markers was very low and did not account for the cognitive impairment observed. CONCLUSION: Neuropsychological disturbances are common in iSS and need to be routinely investigated. The lack of association between the anatomical extent of hemosiderin and cognitive impairment or disease duration suggests that hemosiderin itself is not directly neurotoxic. Additional biomarkers of iSS disease severity and progression are needed for future research and clinical trials.
Authors: G Michael Halmagyi; Geoffrey D Parker; Luke Chen; Miriam S Welgampola; John D G Watson; Michael H Barnett; Michael J Todd; Shadi El-Wahsh; Victoria Rose; Marcus A Stoodley; Jeffrey W Brennan Journal: Eur Arch Otorhinolaryngol Date: 2022-07-16 Impact factor: 3.236