Pattern Recognition in Mitochondrial Leukodystrophies is Hampered by the Peculiarities of Mitochondrial Genetics

J Finsterer - AJNR: American Journal of Neuroradiology, 2022 - ncbi.nlm.nih.gov
We read with interest the article by Roosendaal et al 1 about the imaging findings in 132
patients with mitochondrial leukodystrophy. It was concluded that in many of these patients …

Imaging patterns characterizing mitochondrial leukodystrophies

SD Roosendaal, T van de Brug… - American Journal …, 2021 - Am Soc Neuroradiology
BACKGROUND AND PURPOSE: Achieving a specific diagnosis in leukodystrophies is often
difficult due to clinical and genetic heterogeneity. Mitochondrial defects cause 5%–10% of …

Cavitating leukoencephalopathy in a child carrying the mitochondrial A8344G mutation

R Biancheri, D Rossi, D Cassandrini… - American Journal …, 2010 - Am Soc Neuroradiology
Mitochondrial disorders are usually characterized by the combination of deep gray and
white matter involvement on brain imaging. However, a selective white matter involvement …

Identifying Neuroimaging Patterns in Mitochondrial Leukoencephalopathies (P8-4.001)

S Sharma, J Peterson, CA Alves - 2023 - AAN Enterprises
Objective: To identify patterns of white matter involvement in mitochondrial disease.
Background: Mitochondrial disease has been estimated to affect 1 in 4300 individuals …

[HTML][HTML] Phenotypical heterogeneity of mitochondrial encephalopathy with lactic acidosis and stroke-like episodes in a patient with recurrent movement disorder

HG Kim, KM Lee - Quantitative Imaging in Medicine and Surgery, 2022 - ncbi.nlm.nih.gov
Discussion Mitochondrial encephalomyopathies can be divided into three main syndromes
(1): MELAS, myoclonus epilepsy associated with ragged red fibers (MERRF) and Kearns …

[PDF][PDF] MR demonstration of leukoencephalopathy associated with mitochondrial encephalomyopathy: case report.

FS Sandhu, WP Dillon - AJNR: American Journal of …, 1991 - Am Soc Neuroradiology
Discussion The term mitochondrial encephalomyopathy describes mitochondrial disease in
which both the muscle and the CNS are involved, but, in contrast to mitochondrial myopathy …

Mitochondrial encephalomyopathy with lactic acidosis and strokelike episodes presenting before 50 years of age: when a stroke is not just a stroke

C Marques-Matos, J Reis, C Reis, L Castro… - JAMA …, 2016 - jamanetwork.com
Discussion The diagnosis of mitochondrial encephalomyopathy with lactic acidosis and
strokelike episodes (MELAS) syndrome is sometimes elusive owing to the phenomenon of …

Late-onset mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes with bitemporal lesions

YY Kisanuki, KL Gruis, TL Smith… - Archives of …, 2006 - jamanetwork.com
ATHIN 50-YEAR-OLD man with a history of diabetes and deafness and a family history of
hearing dysfunction presented with newonset headaches, psychiatric symptoms, and a …

Cerebral Ultrasonography of Cytotoxic Edema in a Newborn With a Mitochondrial Disorder

M Agüera, N Carreras, T Agut - JAMA neurology, 2022 - jamanetwork.com
A preterm infantborn at 34 weeks' gestation weighing 1500 g due to intrauterine growth
restriction (IUGR) presented with persistent hyperlacticaemia. Clinical evolution was …

Neuroimaging of mitochondrial disease

RP Saneto, SD Friedman, DWW Shaw - Mitochondrion, 2008 - Elsevier
Mitochondrial disease represents a heterogeneous group of genetic disorders that require a
variety of diagnostic tests for proper determination. Neuroimaging may play a significant role …