3.8 Article

Cognitive aspects of MELAS and CARASAL

Related references

Note: Only part of the references are listed.
Article Biochemistry & Molecular Biology

Clinical features of mtDNA-related syndromes in adulthood

V Montano et al.

Summary: Mitochondrial diseases, caused by defects in oxidative phosphorylation, are the most common inheritable metabolic diseases and are often the result of mutations in nuclear or mitochondrial DNA. The unique genetics of mitochondrial DNA partially explains the wide variability in phenotype and the complexity of genotype-phenotype correlations, presenting challenges in genetic counseling. New genetic sequencing technologies have improved diagnosis and often eliminate the need for tissue biopsy in diagnosing mitochondrial DNA-related syndromes.

ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS (2021)

Article Clinical Neurology

Intracerebral Hemorrhage in Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy Prevalence, Clinical and Neuroimaging Features and Risk Factors

Yi-Chu Liao et al.

Summary: ICH is a significant manifestation of CADASIL, with a prevalence of 21.3% in patients studied. Hypertension and a higher total small vessel disease score are associated with the presence of ICH lesions. The presence of CMBs in the brain stem and a total CMB count >10 are independently associated with ICH lesions in patients with CADASIL.

STROKE (2021)

Review Clinical Neurology

Mitochondrial disease in adults: recent advances and future promise

Yi Shiau Ng et al.

Summary: In the past five years, significant progress has been made in understanding, diagnosing, and treating mitochondrial diseases. National cohorts and international collaborations have expanded knowledge of the clinical phenotypes and natural history, high-throughput sequencing has altered diagnostic approaches, and efforts are ongoing to find better treatments including drug repurposing and gene therapies. Reproductive technologies also offer opportunities to prevent DNA-related mitochondrial disease transmission.

LANCET NEUROLOGY (2021)

Article Cell Biology

Cognitive impairment, clinical severity and MRI changes in MELAS syndrome

Torsten Kraya et al.

MITOCHONDRION (2019)

Article Medicine, Research & Experimental

mtDNA heteroplasmy level and copy number indicate disease burden in m.3243A>G mitochondrial disease

John P. Grady et al.

EMBO MOLECULAR MEDICINE (2018)

Review Clinical Neurology

Review: Vascular dementia: clinicopathologic and genetic considerations

H. V. Vinters et al.

NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY (2018)

Article Clinical Neurology

Clinical and genetic characterization of leukoencephalopathies in adults

David S. Lynch et al.

BRAIN (2017)

Article Clinical Neurology

Cathepsin A-related arteriopathy with strokes and leukoencephalopathy (CARASAL)

Marianna Bugiani et al.

NEUROLOGY (2016)

Article Clinical Neurology

Prevalence of Nuclear and Mitochondrial DNA Mutations Related to Adult Mitochondrial Disease

Grainne S. Gorman et al.

ANNALS OF NEUROLOGY (2015)

Review Endocrinology & Metabolism

MELAS syndrome: Clinical manifestations, pathogenesis, and treatment options

Ayman W. El-Hattab et al.

MOLECULAR GENETICS AND METABOLISM (2015)

Review Biochemistry & Molecular Biology

Lysosomal multienzyme complex: pros and cons of working together

Erik J. Bonten et al.

CELLULAR AND MOLECULAR LIFE SCIENCES (2014)

Article Clinical Neurology

Prevalence of mitochondrial DNA disease in adults

Andrew M. Schaefer et al.

ANNALS OF NEUROLOGY (2008)

Article Behavioral Sciences

The Neuropsychologic deficits of MELAS - Evidence of global impairment

Sandy A. Neargarder et al.

COGNITIVE AND BEHAVIORAL NEUROLOGY (2007)

Article Clinical Neurology

MELAS: a neuropsychological and radiological follow-up study

H Sartor et al.

ACTA NEUROLOGICA SCANDINAVICA (2002)