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Mutations in nuclear-encoded protein subunits of the mitochondrial ribosome are an increasingly recognised cause of oxidative phosphorylation system (OXPHOS) disorders. Among them, mutations in the MRPL44 gene, encoding a structural protein of the large subunit of the mitochondrial ribosome, have been identified in four patients with OXPHOS defects and early-onset hypertrophic cardiomyopathy with or without additional clinical features. A 23-year-old individual with cardiac and skeletal myopathy, neurological involvement, and combined deficiency of OXPHOS complexes in skeletal muscle was clinically and genetically investigated. Analysis of whole-exome sequencing data revealed a homozygous mutation in MRPL44 (c.467 T > G), which was not present in the biological father, and a region of homozygosity involving most of chromosome 2, raising the possibility of uniparental disomy. Short-tandem repeat and genome-wide SNP microarray analyses of the family trio confirmed complete maternal uniparental isodisomy of chromosome 2. Mitochondrial ribosome assembly and mitochondrial translation were assessed in patient derived-fibroblasts. These studies confirmed that c.467 T > G affects the stability or assembly of the large subunit of the mitochondrial ribosome, leading to impaired mitochondrial protein synthesis and decreased levels of multiple OXPHOS components. This study provides evidence of complete maternal uniparental isodisomy of chromosome 2 in a patient with MRPL44 -related disease, and confirms that MRLP44 mutations cause a mitochondrial translation defect that may present as a multisystem disorder with neurological involvement.

The psychiatric manifestations of Huntington's disease are myriad and difficult to control. The use of electroconvulsive therapy (ECT) is not commonly considered for this condition. We describe a patient with severe depression, psychomotor retardation, delusions and weight loss who responded to ECT with good control of her symptoms. Both our case and the literature appear to confirm the efficacy of ECT in the treatment of depression in Huntington's disease and suggest that other psychiatric manifestations of Huntington's are also responsive. ECT is an effective and safe treatment that should be considered earlier in the course of the disease in cases that show limited response to pharmacological therapy. It should also be considered as an adjunct to medical therapy that may simplify polypharmacy and allow better control in patients with debilitating psychiatric manifestations of the disease. There is limited and conflicting evidence for its efficacy in chorea.

Pre and post-herpetic SUNCT syndrome is a rare but previously reported complication of herpes zoster reactivation. We report a case of a zoster associated SUNCT syndrome developing at the same time as reactivation.A 79-year-old gentleman was referred to Neurology for refractory right sided facial pain. 7 months prior to presentation he had developed shingles in the right upper face around his forehead area, which was managed by his GP. At the same time, he developed daily attacks of sharp stabbing pain behind his eye, up to 5 a day, lasting up to 5 minutes each. This was associated with injection and lacrimation of the affected eye. The attacks can be triggered by touch, such as a shower. Neurological examination was unremarkable except for allodynia in the right V1 distribution. Plain MRI scan showed cortical atrophy only.He had a good response to lamotrigine. nchlasim@doctors.org.uk

We report the case of a 56 year old male, presenting approximately 6 weeks after his first symptoms of Sporadic Creutzfeldt-Jakob Disease. The patient demonstrated classical magnetic resonance imaging (MRI) and electroencephalographic (EEG) changes reflecting clinical progression.Creutzfeldt-Jakob Disease was suspected and later confirmed by positive biochemical markers approximately 10 days after presentation; including positive protein 14-3-3, S-100b and positive rtQUIC assay.Serial MRI and EEG findings correlated with clinical symptoms witnessed on presentation (nystagmus, mild myoclonus and lability of mood) and disease progression through to coma before deathMRI changes were seen as initial localised cortical ribboning progressing to more widespread ribboning and areas of high signal in the basal ganglia (striatum). This correlated with the findings on his earliest EEG of periodic frontal and right side dominant sharp waves, to the last EEG showing more widespread periodic sharp waves.MRI and EEG findings are discussed as well as differentials that may appear with similar MRI findings.The presentation provides an accessible learning case for neurologist, neuro-radiologists and neurophysiologists at all levels.