Neuroradiological findings expand the phenotype of OPA1-related mitochondrial dysfunction

Leber's Hereditary Optic Neuropathy–Specific Mutation m.11778G>A Exists on Diverse Mitochondrial Haplogroups in India

“…In the majority of cases, LHON mutations lead to isolated optic nerve atrophy, and occasionally patients exhibit additional neurological symptoms. [45][46][47] However, no such additional clinical features were observed in our cohort.…”

Disturbed mitochondrial and peroxisomal dynamics due to loss of MFF causes Leigh-like encephalopathy, optic atrophy and peripheral neuropathy

“…Cerebellar atrophy was observed as a subsequent sign and was most distinct in patient 1 (figure 1E) and at an early stage in patient 3. Cerebellar atrophy and increased T2 signalling (dentate nucleus in patient 1, figure 1C) are common findings in patients with mitochondrial disease25 and have been described as well in patients with mutations in genes involved in mitochondrial dynamics such as SLC25A46 (optic atrophy and CM T type 2 disease)26 and in patients with OPA1 mutations 27. In contrast to OPA1 patients, no deletions of mtDNA were identified in muscle sample from patient 3.…”

OPA1-related disorders: Diversity of clinical expression, modes of inheritance and pathophysiology

“…For example, in the OPA1-related neurosensorial deafness, the terminal unmyelinated segment of the auditory spiral ganglion neurons undergoes neurodegeneration (Huang et al, 2009). In patients with OPA1-related disorders, brain MRI has disclosed various cerebral abnormalities, including lactate peak (in spectroscopy studies), as well as cerebellar and cortical atrophy, which may occur even in non-syndromic cases (Roubertie et al, 2015). In this respect, the Opa1 +/− mouse model has shown cerebral and cerebellar atrophy, as well as histological and ultrastructural alterations in the central and peripheral nervous systems.…”