We characterized neurodegeneration in Wolfram syndrome by combining MR neuroimaging and proton MRS, and evaluated pathological accumulation of brain lactate as a. mitochondrial oxidative impairment marker. Cerebellar white matter loss was widespread, while grey matter loss was stronger within sensorimotor and cognitive cerebellar lobules. Infratentorial neurodegeneration was confirmed by biochemical signs of neuro-axonal degeneration in cerebellum and pons. The lack of abnormal ventricle lactate suggests an absence of dysfunction of mitochondrial metabolism. These morphological, microstructural and biochemical alterations were in line with neuropathological findings of loss of myelinated axons in the visual system, smaller brainstem and cerebellar white matter loss.
How to access this content:
For one year after publication, abstracts and videos are only open to registrants of this annual meeting. Registrants should use their existing login information. Non-registrant access can be purchased via the ISMRM E-Library.
After one year, current ISMRM & ISMRT members get free access to both the abstracts and videos. Non-members and non-registrants must purchase access via the ISMRM E-Library.
After two years, the meeting proceedings (abstracts) are opened to the public and require no login information. Videos remain behind password for access by members, registrants and E-Library customers.
Keywords