A 65-year-old man presented with transient neurological symptoms, followed by rapid cognitive decline, myoclonus and fevers. He had evidence of scleritis and an arthropathy. This paper reports the clinicopathological conference discussed at the Association of British Neurologists Annual Meeting 2017.

Myoclonus Dystonia is associated with a mutation in the epsilon sarcoglycan gene (SGCE – DYT-11). Russell-Silver syndrome is characterised by intrauterine growth restriction, poor postnatal growth, relative macrocephaly, triangular facial appearance and fifth finger clinodactyly. It is associated with maternal uniparental disomy of chromosome 7 (mUPD 7) in 5%–10% of cases. Previous cases of myoclonus dystonia associated with Russell-Silver syndrome have been reported in patients with mUPD 7. We report a case of myoclonus dystonia and Russell-Silver syndrome in a 41 year old man with a microdeletion of chromosome 7q. The patient was born full term but was of low birth weight. He suffered from myoclonus from the age of four. Presenting to adult neurology aged 18 he was of small stature, had dysmorphic features and had multifocal myoclonus that was action-induced, stimulus-sensitive and alleviated by alcohol. Investigations for mitochondrial disorders and other causes of progressive myoclonic epilepsy were negative. At age 35 he was found to have mild torticollis and a chromosomal microarray showed a deletion of 35 genes, including SGCE. We propose that this gentleman fulfils the criteria for Russell-Silver syndrome and that this is associated with his chromosomal microdeletion, which was discovered on investigation of his movement disorder.

We report the case and functional MRI imaging findings of a patient who, following a diagnosis of acute motor and sensory axonal neuropathy (AMSAN) reported supernumerary phantom limbs of both arms and legs. A 55 year old female, having presented with neuromuscular weakness requiring ventilatory support, was diagnosed with AMSAN, confirmed following lumbar puncture and nerve conduction studies. Early during inpatient rehabilitation the patient reported an unusual sensation of having ‘two extra arms and legs’. Symptoms persisted for many weeks, with improvement slowly tracking her neurological recovery. Visualising her normal limbs helped reduce the awareness of the ‘phantom’ limb resulting in a subjective improvement in her motor function. A functional MRI was undertaken during which a motor paradigm task was performed both with and without sight of the respective arms. As expected, both tasks demonstrated activity within the respective primary motor and supplementary motor cortical areas. However, increased activity was demonstrated when performing these tasks with sight of the normal limb. We discuss the interpretation of these findings alongside a review of supernumerary phantom limbs in neurological practice.

Medical Journal of AustraliaVolume 203, Issue 11 p. 457-457 Christmas Competition ’Twas the night before Grand Round … Richard J B Ellis MBChB(Hons), MPhil, MRCP, Corresponding Author Richard J B Ellis MBChB(Hons), MPhil, MRCP richard.ellis@thewaltoncentre.nhs.uk The Walton Centre NHS Foundation Trust, Liverpool, UKCorrespondence: richard.ellis@thewaltoncentre.nhs.ukSearch for more papers by this authorBarnaby N Hirons MBChB, MSc, MRCP, Barnaby N Hirons MBChB, MSc, MRCP Holy Spirit Northside, Brisbane, QLDSearch for more papers by this authorAlexandra E May MBChB(Hons), MRCGP, Alexandra E May MBChB(Hons), MRCGP The Ash Surgery, Liverpool, UKSearch for more papers by this authorDavid J McCreary MBChB, MRCEM, David J McCreary MBChB, MRCEM University Hospital Aintree, Liverpool, UKSearch for more papers by this authorNicholas D Peterson MBChB(Hons), MRCS, Nicholas D Peterson MBChB(Hons), MRCS Whiston Hospital, Prescot, UKSearch for more papers by this authorLeonard M Quinn MBChB(Hons), MRCS, Leonard M Quinn MBChB(Hons), MRCS Southport Hospital, Southport, UKSearch for more papers by this authorBesa Ziso MBChB, MRCP, Besa Ziso MBChB, MRCP The Walton Centre NHS Foundation Trust, Liverpool, UKSearch for more papers by this authorMichael Bonello MD, MRCP, Michael Bonello MD, MRCP The Walton Centre NHS Foundation Trust, Liverpool, UKSearch for more papers by this authorBrython Hywel MBBCh(Hons), MRCP, Brython Hywel MBBCh(Hons), MRCP The Walton Centre NHS Foundation Trust, Liverpool, UKSearch for more papers by this authorBenedict D Michael MBChB(Hons), MRCP, PhD, Benedict D Michael MBChB(Hons), MRCP, PhD The Walton Centre NHS Foundation Trust, Liverpool, UKSearch for more papers by this authorSean D Brown BSc(Hons), MBChB, MRCP, Sean D Brown BSc(Hons), MBChB, MRCP Clatterbridge Hospital, Wirral, UKSearch for more papers by this authorBenjamin D Murray BSc(Hons), MBChB(Hons), FRCA, Benjamin D Murray BSc(Hons), MBChB(Hons), FRCA Liverpool Heart and Chest Hospital, Liverpool, UKSearch for more papers by this authorDuncan M Rogers MBChB, MRCGP, Duncan M Rogers MBChB, MRCGP Market Street Surgery, Newton Le Willows, UKSearch for more papers by this authorMatt Barrett BSc, Matt Barrett BSc The Old Post Office Clinic, Ingleton, UKSearch for more papers by this authorMark Doran MD, PhD, FRCP, Mark Doran MD, PhD, FRCP The Walton Centre NHS Foundation Trust, Liverpool, UKSearch for more papers by this author Richard J B Ellis MBChB(Hons), MPhil, MRCP, Corresponding Author Richard J B Ellis MBChB(Hons), MPhil, MRCP richard.ellis@thewaltoncentre.nhs.uk The Walton Centre NHS Foundation Trust, Liverpool, UKCorrespondence: richard.ellis@thewaltoncentre.nhs.ukSearch for more papers by this authorBarnaby N Hirons MBChB, MSc, MRCP, Barnaby N Hirons MBChB, MSc, MRCP Holy Spirit Northside, Brisbane, QLDSearch for more papers by this authorAlexandra E May MBChB(Hons), MRCGP, Alexandra E May MBChB(Hons), MRCGP The Ash Surgery, Liverpool, UKSearch for more papers by this authorDavid J McCreary MBChB, MRCEM, David J McCreary MBChB, MRCEM University Hospital Aintree, Liverpool, UKSearch for more papers by this authorNicholas D Peterson MBChB(Hons), MRCS, Nicholas D Peterson MBChB(Hons), MRCS Whiston Hospital, Prescot, UKSearch for more papers by this authorLeonard M Quinn MBChB(Hons), MRCS, Leonard M Quinn MBChB(Hons), MRCS Southport Hospital, Southport, UKSearch for more papers by this authorBesa Ziso MBChB, MRCP, Besa Ziso MBChB, MRCP The Walton Centre NHS Foundation Trust, Liverpool, UKSearch for more papers by this authorMichael Bonello MD, MRCP, Michael Bonello MD, MRCP The Walton Centre NHS Foundation Trust, Liverpool, UKSearch for more papers by this authorBrython Hywel MBBCh(Hons), MRCP, Brython Hywel MBBCh(Hons), MRCP The Walton Centre NHS Foundation Trust, Liverpool, UKSearch for more papers by this authorBenedict D Michael MBChB(Hons), MRCP, PhD, Benedict D Michael MBChB(Hons), MRCP, PhD The Walton Centre NHS Foundation Trust, Liverpool, UKSearch for more papers by this authorSean D Brown BSc(Hons), MBChB, MRCP, Sean D Brown BSc(Hons), MBChB, MRCP Clatterbridge Hospital, Wirral, UKSearch for more papers by this authorBenjamin D Murray BSc(Hons), MBChB(Hons), FRCA, Benjamin D Murray BSc(Hons), MBChB(Hons), FRCA Liverpool Heart and Chest Hospital, Liverpool, UKSearch for more papers by this authorDuncan M Rogers MBChB, MRCGP, Duncan M Rogers MBChB, MRCGP Market Street Surgery, Newton Le Willows, UKSearch for more papers by this authorMatt Barrett BSc, Matt Barrett BSc The Old Post Office Clinic, Ingleton, UKSearch for more papers by this authorMark Doran MD, PhD, FRCP, Mark Doran MD, PhD, FRCP The Walton Centre NHS Foundation Trust, Liverpool, UKSearch for more papers by this author First published: 14 December 2015 https://doi.org/10.5694/mja15.00803Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease 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The casemix of an early-onset dementia clinic is different from that usually seen by old age psychiatrists or geriatricians and includes frontotemporal lobar degeneration, prion disease and genetically determined dementia as well as Alzheimer's disease. This brief review summarises the causes, diagnostic considerations and management of early-onset dementias based on the authors' experience of working in a neurology-led cognitive function clinic at a regional neuroscience centre.

SIR—There are a number of case studies and small case series of intracranial dural arteriovenous fistula (DAVF) associated with cognitive impairment sufficient to amount to a dementia syndrome, with resolution of cognitive deficits following definitive treatment (surgical, endovascular) of the fistula [1–19]. Thus intracranial DAVF is recognised as a rare cause of reversible vascular dementia, through a presumed mechanism of intracerebral venous hypertension. However, accounts of the precise neuropsychological deficits in these patients and serial documentation of cognitive function are largely lacking, most reports focusing on the neuroradiology of the vascular anatomy and endovascular intervention. This may be due in part to the necessity for prompt therapeutic intervention when there is acute neurological deterioration [5], although at least some intracranial DAVF cases are associated with slowly progressive cognitive decline sufficient to suggest an initial differential diagnosis of neurodegenerative dementia [8, 9, 15, 16]. The label of ‘thalamic dementia’ has been used on occasion, based largely on neuroimaging findings of bilateral thalamic involvement [10, 17, 18]. Our experience with three cases of intracranial DAVF [20] has included serial monitoring of cognitive function, either with formal neuropsychological assessment or the Addenbrooke's Cognitive Examination (ACE) [21], a ‘bedside’ test which incorporates the Mini-Mental State Examination (MMSE) [22] and with which we have extensive experience [23]. As the clinical and neuroradiological details of these cases have been previously reported, only the cognitive findings are given here.

Presenilin 1 (PSEN1) gene mutations deterministic for Alzheimer's disease (AD) are associated with marked heterogeneity in clinical phenotype, with behavioral and psychiatric features, parkinsonism, myoclonus, epileptic seizures, spastic paraparesis, frontal behavioral changes suggestive of the phenotype of frontotemporal dementia, aphasia, and cerebellar ataxia being described as well as cognitive decline. This article reviews publications on the clinical neurological phenotype of PSEN1 mutations published between October 2008 and April 2013 and integrates this information with previous reviews to produce tabular summaries of phenotype and genotype. With the possible exception of "variant AD" (familial AD with spastic paraparesis), no clinical genotype-phenotype correlations are obvious. The mechanisms underpinning the clinical heterogeneity associated with PSEN1 mutations remain unclear. The "presenilin hypothesis" posits a loss of essential presenilin protein functions as a consequence of gene mutation, which might be one factor influencing disease phenotype.

Background: Frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP-17) owing to the tau intron 10 + 16 mutation usually occurs with a prototypical frontotemporal dementia phenotype with prominent disinhibition and affective disturbances.Objective: To report a new FTDP-17 pedigree with the tau intron 10 + 16 mutation demonstrating a clinical phenotype suggestive of Alzheimer disease.Design: Case reports.Setting: Regional neuroscience centers in northwest England.Patients: We examined 4 members of a kindred in which 8 individuals were affected in 3 generations.Results: All 4 patients reported memory difficulty. Marked anomia was also present, but behavioral disturbances were conspicuously absent in the early stages of disease. All patients had an initial clinical diagnosis of Alzheimer disease. No mutations were found in the presenilin or amyloid precursor protein genes. Pathologic examination of the proband showed features typical of FTDP-17, and tau gene analysis showed the intron 10 + 16 mutation.Conclusions: This pedigree illustrates the phenotypic variability of tau intron 10 + 16 mutations. In pedigrees with a clinical diagnosis of Alzheimer disease but without presenilin or amyloid precursor protein gene mutations, tau gene mutations may be found.

This study examined the full range of effects associated with “semantic access impairment” – namely, refractory variables (semantic relatedness, speed of presentation and item repetition), inconsistency, the absence of frequency effects and facilitation by cues – in a series of stroke patients with multimodal semantically impairment. By investigating all of these factors in a group of patients who were not specifically selected to show “access” effects, we were able to establish (1) whether this pattern is a common consequence of infarcts that produce semantic impairment and (2) if these symptoms co-occur. All of the patients showed effects of cueing and an absence of frequency effects in comprehension. Patients whose brain damage included the left inferior prefrontal cortex (LIPC) also showed marked effects of refractory variables; in contrast, two patients with temporal–parietal but not frontal lesions were less sensitive to these variables. Parallel results were obtained for cyclical naming and word–picture matching tasks suggesting that the LIPC plays a role in semantic selection as well as lexical retrieval. Rapid presentation and item repetition is likely to have increased the selection demands in both of these tasks in a similar fashion. Unlike patients with classical “semantic access impairment”, our semantically impaired stroke patients showed significant test–retest consistency, indicating that their difficulties did not result from an unpredictable failure of semantic access—instead, their deficits were interpreted as arising from failures of semantic control.

A 38-year-old woman seropositive for hepatitis C developed headache, sensorineural hearing loss, encephalopathy, and retinal arteriolar occlusions. Brain MRI showed signal abnormalities in the basal ganglia and corpus callosum. These features are consistent with Susac syndrome, a multifocal central nervous system disorder of uncertain etiology. This is the first reported case of Susac syndrome in a patient with hepatitis C.

Film music, often considered a ‘Cinderella’ art-form, is really more of a ‘Sleeping Beauty’: to a ‘first approximation’, its entire history exists on films which we are never shown. Prefatory to the 2003 Musicians Benevolent Fund Royal Concert on 4 November, however, the Barbican cinema presented an early-evening resuscitation of no fewer than four long-dormant items connected in some way with Vaughan Williams, two of whose orchestral works were programmed to follow.

Judith Bingham was born in Nottingham in 1952, and grew up in Mansfield and Sheffield. After making considerable self-taught progress in composition while still a schoolgirl, she attended the Royal Academy of Music (1970–73), where her teachers were Malcolm MacDonald, Eric Fenby Alan Bush and John Hall (composition), and Jean Austin-Dobson (singing). In 1972 she was awarded the Academy's ‘Principal's Prize for Composition’ for the ‘Fires of London’-influenced chamber-piece Maelstrom . After obtaining her Performer's Certificate, she continued her composition studies privately with Hans Keller (1974–80), and took singing lessons from Eric Vietheer and David Mason. In 1976 she was selected for the BBC's ‘Young Composers' Forum’ on the strength of two scores: The Divine Image (1976) for harpsichord, and The Fourth Universe (1976) for mezzo-soprano and harpsichord.

VAUGHAN WILLIAMS: The Film Music, Volume 1: Scott of the Antarctic; Coastal Command; The People's Land. BBC Philharmonic Orchestra c. Rumon Gamba, w. Merrin Gamba (sop), John Scott (organ), Sheffield Philharmonic Chorus. Chandos CHAN 10007. - Volume 58 Issue 227

David Matthews was born in Walthamstow, London, in 1943. He began composing – with an attempt at a full-scale symphony – at the age of 16 but, being self-taught and formally unqualified in music, went to study classics at Nottingham University (1962–65; the university awarded him an Honorary Doctorate in Music in 1997). Starting in the early 1960s he was one of the musicians (along with his composer brother Colin and the composer and conductor Berthold Goldschmidt) who assisted Deryck Cooke in the preparation of what became Cooke's famous ‘Performing Version’ of the draft of Mahler's Tenth Symphony. Between 1966 and 1969 Matthews took lessons from Anthony Milner. During this period he was also working at Aldeburgh as an assistant to Benjamin Britten (1966–70); a few years later, it was to be in an improvised piano-duet version played by David and Colin Matthews that the partly paralysed Britten first heard his own Third String Quartet (1975).

Nestling on the Kent coast between Ramsgate and Dover, the historic town of Deal is the distinctly pleasant home of a Summer Music Festival which in its 21 seasons has come to incorporate a fair amount of important contemporary music alongside more traditional offerings. This year's programme featured a welcome performance of the Seventh Piano Sonata (1956) by Harold Truscott (1914–92), marking the tenth anniversary of the death of this composer (resident in Deal from 1954); the world première of the choral work Town and Country (2002) by the Festival's new President, Kent-born Sir Richard Rodney Bennett (b.1936); and two compositions (and one arrangement) by David Matthews (b.1943), part-time Deal resident and the Festival's Artistic Director since 1989.

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Composers, so the conventional wisdom has it, tend to be bad analysts – too ready to find things that aren't there (and to overlook or undervalue things that are), if the result will help to make their own creative preoccupations seem legitimate, important or necessary. Nor is conventional wisdom inevitably wrong on this point: as a trawl through half-a-century's worth of certain journals will speedily affirm, consciously or unconsciously self-serving 'analysis' has in some composing circles been more the rule than the exception.

On the face of it, Bach's St. Matthew Passion and Vaughan Williams's Ninth Symphony are two works which could hardly have less in common. Even the one feature they might be said to share at the outset – some form of E minor tonality – has come to divide them by the end: the Baroqueperiod work concludes not in the starting key but in a ‘progressive’ C minor, and it is, curiously, the 20th-century symphony which not only returns to its original tonic but also makes use of the Baroque feature of the ‘picardy third’.