Search
Search Results
-
Differentiating rhythmic high-amplitude delta with superimposed (poly) spikes from extreme delta brushes: limitations of standardized nomenclature and implications for patient management
BackgroundFollowing the standardized nomenclature proposed by the American Clinical Neurophysiology Society (ACNS), rhythmic high-amplitude delta...
-
Insights into Lewy body disease from rare neurometabolic disorders
Professor Kurt Jellinger is well known for his seminal work on the neuropathology of age-associated neurodegenerative disorders, particularly Lewy...
-
Rod bipolar cell dysfunction in POLG retinopathy
ObjectiveTo report the clinical and novel electrophysiological features in a child with POLG -related sensory ataxic neuropathy, dysarthria and...
-
Neuromitochondrial Disorders
Mitochondrial disorders have been an enigma for a long time due to the varied clinical presentations. Although a genetic confirmation will be...
-
The evolution of the mitochondrial disease diagnostic odyssey
BackgroundMitochondrial diseases often require multiple years and clinicians to diagnose. We lack knowledge of the stages of this diagnostic odyssey,...
-
Heterozygous POLG variant Ser1181Asn co-segregating in a family with autosomal dominant axonal neuropathy, proximal muscle fatigability, ptosis, and ragged red fibers
By whole-exome sequencing, we found the heterozygous POLG variant c.3542G>A; p.Ser1181Asn in a family of four affected individuals, presenting with a...
-
Neurogenetic disorders across the lifespan: from aberrant development to degeneration
Intellectual disability and autism spectrum disorder (ASD) are common, and genetic testing is increasingly performed in individuals with these...
-
Genetics of Mitochondrial Cardiomyopathy
Purpose of ReviewPrimary mitochondrial disorders (PMD) are a heterogeneous group of individual genetic multi-systemic diseases that are challenging...
-
Molecular basis of Leigh syndrome: a current look
Leigh Syndrome (OMIM 256000) is a heterogeneous neurologic disorder due to damage in mitochondrial energy production that usually starts in early...
-
The burden of mitochondrial disease with associated seizures: systematic literature reviews of health-related quality of life, utilities, costs and healthcare resource use data
BackgroundMitochondrial disease is a degenerative, progressive, heterogeneous group of genetic disorders affecting children and adults. Mitochondrial...
-
POLG-related disorders and their neurological manifestations
The POLG gene encodes the mitochondrial DNA polymerase that is responsible for replication of the mitochondrial genome. Mutations in POLG can cause...
-
Novel biallelic mutations in POLG gene: large deletion and missense variant associated with PEO
BackgroundMitochondrial disorders are clinically heterogeneous diseases associated with impaired oxidative phosphorylation (OXPHOS) activity. POLG ,...
-
Movement disorders and neuropathies: overlaps and mimics in clinical practice
Movement disorders as well as peripheral neuropathies are extremely frequent in the general population; therefore, it is not uncommon to encounter...
-
Lipids, lysosomes and mitochondria: insights into Lewy body formation from rare monogenic disorders
Accumulation of the protein α-synuclein into insoluble intracellular deposits termed Lewy bodies (LBs) is the characteristic neuropathological...
-
Drug Treatment of Progressive Myoclonic Epilepsy
The progressive myoclonic epilepsies (PMEs) represent a rare but devastating group of syndromes characterized by epileptic myoclonus, typically...
-
Ketogenic treatment reduces the percentage of a LHON heteroplasmic mutation and increases mtDNA amount of a LHON homoplasmic mutation
BackgroundThe vision loss in Leber hereditary optic neuropathy patients is due to mitochondrial DNA mutations. No treatment has shown a clear-cut...
-
Spectrum of movement disorders and neurotransmitter abnormalities in paediatric POLG disease
ObjectivesTo describe the spectrum of movement disorders and cerebrospinal fluid (CSF) neurotransmitter profiles in paediatric patients with POLG ...
