Elderly woman with subacute lower limb weakness and rapid systemic decline.

A 74-year-old woman developed bilateral leg weakness, with fluctuating cognitive and systemic symptoms that progressed despite treatment. Her diagnosis was confirmed at autopsy. Her case was discussed at the Edinburgh Clinical Neurology Course 2019 Clinicopathological Conference.

Tracheostomy and salivary gland radiotherapy for severe sialorrhoea in motor neurone disease.

The management of excessive secretions in patients with motor neurone disease can be challenging. In this paper, we highlight the main issues from the perspectives of a patient, specialist nurse and neurologist and the importance of a multidisciplinary approach.

Reversible hypomagnesaemia-induced subacute cerebellar syndrome.

Magnesium is the second most abundant intracellular cation and is a fundamental cofactor in a multitude of cellular enzymatic reactions. Magnesium deficiency causes diverse clinical features predominantly due to cardio- and neurotoxicity. We describe a case of severe hypomagnesaemia associated with intermittent downbeat nystagmus, cerebellar ataxia, generalised convulsions and a supraventricular tachycardia. On MRI imaging, a transient lesion of the cerebellar nodulus was observed, which has not, to our knowledge, been previously described in isolated hypomagnesaemia.

Accessory nerve palsies.

Accessory nerve palsies may cause considerable functional disability and they unfortunately continue to occur as a complication of surgery in and, around the posterior triangle of the neck. Here the causes of accessory nerve palsies are reviewed and the symptoms and signs arising as a consequence are summarised. In addition, the various treatments and their indications are highlighted and discussed.

Cerebellar ataxia, peripheral neuropathy, "gluten sensitivity" and anti-neuronal autoantibodies.

"Gluten sensitive" neurological syndromes (ataxia, peripheral neuropathy, and other conditions) have been hypothesised in patients with various idiopathic neuropathologies, detectable anti-gliadin antibodies and HLA-DQ2 or DQ7. Further investigation of these cases has suggested a high incidence of anti-neuronal antibodies (anti-Purkinje, anti- neuronal nuclear, anti-GAD). This study investigates this contentious area. Over a two-year period, from a local UK population base of two million, seeing over 5000 general neurology referrals per year, we collected 20 cases with idiopathic ataxia, and 32 with idiopathic peripheral neuropathy, and referred them all for blinded antibody testing. 30 adult healthy blood donors, and 7 cases of hereditary ataxia were used as control subjects. Anti-gliadin antibodies (IgG and or IgA) were found in 40% of cases with idiopathic ataxia, 34% with idiopathic peripheral neuropathy, 17% healthy blood donors and 43% with hereditary ataxia. None was positive for antiPurkinje cell or anti-neuronal nuclear antibodies. Only two patients with idiopathic ataxia were positive for antiGAD antibodies (one also being anti-gliadin positive). We were unable to confirm the findings of other groups. First, cases of so-called "gluten sensitive" neurological syndromes were extremely rare in our centre. Second, our idiopathic cases, whether they be gliadin antibody seropositive or not (i.e. "gluten sensitive" or not) were rarely neuronal autoantibody positive.

Spinocerebellar ataxia type 17: extension of phenotype with putaminal rim hyperintensity on magnetic resonance imaging.

We report on a 50-year-old woman who presented with an 8-year history of involuntary movements, unsteadiness, and cognitive decline. Examination revealed multidomain cognitive deficits, jerky ocular pursuit movements, hypometric saccades, gaze impersistence, dysarthria, upper limb dystonia, and widespread chorea. TATA-binding protein gene test revealed trinucleotide expansion allele sizes of 47 and 39 repeats, confirming the diagnosis of spinocerebellar ataxia type 17 (SCA-17). Magnetic resonance imaging (MRI) showed marked cerebellar atrophy and putaminal rim hyperintensity. This is the first case of SCA-17 reported to show MRI signal change in the basal ganglia, and extends the phenotypic manifestation of SCA-17.

Assessment of professional development of neurology trainees: a UK perspective.

The European Working Time Directive has led to concerns that trainees' hours of work will decrease, with negative effects on their training. Various changes to the curriculum are needed to equip trainees for self-directed learning. A strong lobby argues for the introduction of examinations before entry to the consultant grade. Meanwhile, there is intense political pressure (in the UK at least), to shorten the duration of postgraduate training so that pledges for consultant numbers can be met. Reconciliation of these conflicting demands is a challenge for the future. Additional assessment procedures should be piloted. To successfully introduce changes, trainees and trainers will need to work in partnership. Course assessment and student feedback should be formalised. In this paper I summarise the assessment procedures in the UK and US, and suggest a model of best practice.

The prevalence of epilepsy in patients with celiac disease.

PURPOSE: The relation between celiac disease and epilepsy is uncertain. Previous studies have suggested an association, whereas others have not. METHODS: We ascertained the prevalence of active epilepsy in a cohort of 801 celiac patients by patient interviews and retrospective case note review. All the celiac patients had diagnostic confirmation by small bowel biopsy. RESULTS: Twenty-one patients had a history of epileptic seizures, but only nine (1.1%) had active epilepsy. No specific epileptic syndrome was identified. CONCLUSIONS: This study suggests that a causal relation between gluten sensitivity and active epilepsy is unlikely.

Multiple sclerosis and occult gluten sensitivity.

Two atypical patients with a multiple sclerosis (MS)-like illness and evidence of occult celiac disease (CD) were managed by the authors. This prompted screening of a further 49 unselected MS cases for serologic evidence of CD. IgA anti-endomysial antibody was found in one case (2%). IgG anti-gliadin antibody was found in 12% of patients and 13% of blood donors. Anti-gliadin antibody (especially IgG isotype) can be a nonspecific finding.

The neurology of gluten sensitivity: separating the wheat from the chaff.

Coeliac disease is the prototypical gluten-sensitive disease. Clinico-pathological features heal on a gluten-free diet and relapse when gluten is reintroduced. An immunopathology is suspected. A number of neurological syndromes may be associated with coeliac disease but it is unclear whether these are directly or indirectly caused by gluten ingestion. It has been proposed that idiopathic ataxias and central nervous system white matter disease are gluten-sensitive syndromes. This is an exciting hypothesis because it offers new therapeutic possibilities including simple exclusion diets. However, interpretation is difficult because occult sub-clinical coeliac disease occurs commonly and background prevalence needs to be accounted for in population-based studies. This review will attempt to summarize the pertinent literature on this fascinating topic.