Nerve ultrasound detects abnormally small nerves in patients with spinal and bulbar muscular atrophy.

INTRODUCTION/AIMS: Sensory impairment secondary to dorsal root ganglion neuronopathy is common, although often subclinical, in X-linked spinal and bulbar muscular atrophy (SBMA). We investigated the hypothesis that nerves of SBMA patients show the same morphological changes on ultrasound as other inherited sensory neuronopathies and that these changes are distinct from those in axonal neuropathy. METHODS: We compared the ultrasound cross-sectional areas (CSAs) of median, ulnar, sural, and tibial nerves of prospectively recruited SBMA patients with those of patients with acquired axonal neuropathy and healthy controls. We also compared the individual nerve CSAs of SBMA and neuropathy patients with our laboratory reference values. RESULTS: There were 7 SBMA patients, 18 neuropathy patients, and 42 healthy controls. The nerve CSAs of the SBMA patients were significantly smaller than those of patients in the other two groups. The changes were most prominent in the upper limbs (p < .001), with the nerves of the SBMA patients being on average approximately half the size of the controls and a third the size of the neuropathy patients. On individual analysis, the ultrasound abnormality was sufficiently characteristic to be detected in all but one SBMA patient. DISCUSSION: These ultrasound changes are similar to those reported in other inherited sensory neuronopathies and clearly different from the ultrasound findings in axonal neuropathy. Smaller nerves are possibly a distinctive finding in SBMA that may distinguish it from other motor neuron syndromes. Further studies are warranted to confirm this and determine the optimal sonographic protocol.

Reducing medication errors for hospital inpatients with Parkinsonism.

BACKGROUND: Patients with Parkinsonism are 1.5 times more likely than comparators to be hospitalised and have a significantly longer length of stay in hospital. Medication delays, inappropriate medication omission, and administration of contraindicated medications likely contribute to these poor outcomes. Education and hospital system interventions may reduce these errors. AIM: To determine the effectiveness of a multimodal education and awareness campaign in reducing medication errors in patients with Parkinsonism at Hutt Hospital. METHODS: We performed an audit of hospital medication charts to establish the baseline medication error rate and patient outcomes over a 3-month period. We then delivered an intervention consisting of staff education sessions, a sticker alert system and increased priority for pharmacist review of patient drug charts. We repeated the audit after the intervention. RESULTS: In the initial audit, the medication error rate was 22.5%, the clinical complication rate was 45% and one death was directly attributable to medication error. At follow up, the medication error and complication rates were 9.3% (absolute difference 13% (95% conflict of interest (CI) 10-16.4), P < 0.001) and 38% (absolute difference 7% (95% CI -19 to 34), P = 0.59), respectively, and there were no attributable deaths. The average length of stay before and after the intervention was 13 and 8 days respectively (absolute difference 5.7 days (95% CI -1.8 to 13.3), P = 0.135). CONCLUSIONS: There was a high in-hospital medication error rate for Parkinsonian patients. The intervention resulted in a statistically significantly improvement in the medication error rate. The estimated reductions in complication rate and length of stay may be clinically important. Similar interventions may be beneficial in other institutions.

Safety and acceptability of clozapine and risperidone in progressive multiple sclerosis: a phase I, randomised, blinded, placebo-controlled trial.

OBJECTIVE: Because clozapine and risperidone have been shown to reduce neuroinflammation in humans and mice, the Clozapine and Risperidone in Progressive Multiple Sclerosis (CRISP) trial was conducted to determine whether clozapine and risperidone are suitable for progressive multiple sclerosis (pMS). METHODS: The CRISP trial (ACTRN12616000178448) was a blinded, randomised, placebo-controlled trial with three parallel arms (n=12/arm). Participants with pMS were randomised to clozapine (100-150 mg/day), risperidone (2.0-3.5 mg/day) or placebo for 6 months. The primary outcome measures were safety (adverse events (AEs)/serious adverse events (SAE)) and acceptability (Treatment Satisfaction Questionnaire for Medication-9). RESULTS: An interim analysis (n=9) revealed significant differences in the time-on-trial between treatment groups and placebo (p=0.030 and 0.025, clozapine and risperidone, respectively) with all participants receiving clozapine being withdrawn during the titration period (mean dose=35±15 mg/day). Participants receiving clozapine or risperidone reported a significantly higher rate of AEs than placebo (p=0.00001) but not SAEs. Specifically, low doses of clozapine appeared to cause an acute and dose-related intoxicant effect in patients with pMS who had fairly severe chronic spastic ataxic gait and worsening over all mobility, which resolved on drug cessation. INTERPRETATION: The CRISP trial results suggest that patients with pMS may experience increased sensitivity to clozapine and risperidone and indicate that the dose and/or titration schedule developed for schizophrenia may not be suitable for pMS. While these findings do not negate the potential of these drugs to reduce multiple sclerosis-associated neuroinflammation, they highlight the need for further research to understand the pharmacodynamic profile and effect of clozapine and risperidone in patients with pMS. TRIAL REGISTRATION NUMBER: ACTRN12616000178448.

Visual snow: Not so benign.

Visual snow is the perception of flickering dots throughout the entire visual field and occurs with other symptoms of dysfunctional central sensory processing. We describe a patient who presented with visual snow, illusory visual motion, photopsia, and reduced night vision. He subsequently developed progressive cognitive impairment, myoclonus and ataxia. A diagnosis of sporadic Creutzfeldt-Jakob Disease was confirmed on post-mortem examination more than 49 months after symptom onset. The visual snow syndrome is typically benign, but our patient illustrates that occasionally it is the first manifestation of a serious brain disease. Careful application of the diagnostic criteria for the visual snow syndrome is important, particularly with the use of neuroimaging to exclude pathology in the occipital cortex.

A Novel CACNA1A Nonsense Variant [c.4054C>T (p.Arg1352⁎)] Causing Episodic Ataxia Type 2.

Episodic ataxia is a heterogenous group of uncommon neurological disorders characterised by recurrent episodes of vertigo, dysarthria, and ataxia for which a variety of different genetic variations have been implicated. Episodic ataxia type two (EA2) is the most common and also has the largest number of identified causative genetic variants. Treatment with acetazolamide is effective in improving symptoms, so accurate diagnosis is essential. However, a large proportion of patients with EA2 have negative genetic testing. We present a patient with a typical history of EA2 who had a novel variant in the CACNA1A gene not previously described. Report of such variations is important in learning more about the disease and improving diagnostic yield for the patient.

Misleading signs in acute vertigo.

The acute vestibular syndrome is common and usually has a benign cause. Sometimes, however, even experienced neurologists can find it difficult to determine the cause clinically. Furthermore, neuroimaging is known to be insensitive.We describe two cases of acute vestibular syndrome where conflicting clinical findings contributed to a delay in making the correct diagnosis. The first patient with symptomatic vertigo had signs consistent with horizontal benign paroxysmal positional vertigo but also had an abnormal horizontal head impulse test, superficially suggesting acute vestibular neuritis but later accounted for by the finding of a vestibular schwannoma (acoustic neuroma). The second patient also had an abnormal horizontal head impulse test, with skew deviation suggesting stroke as the cause. However, later assessment identified that a long-standing fourth nerve palsy was the true cause for her apparent skew. We discuss potential errors that can arise when assessing such patients and highlight ways to avoid them.

Audit on first seizure presentation to Taranaki Base Hospital: a secondary centre experience.

BACKGROUND: Management of first seizure should be based on treating the underlying cause and tailoring investigations to identify those patients at high risk of recurrence. AIM: To establish the incidence of first seizure presentation to Taranaki Base Hospital and investigate the management of these patients. METHOD: A retrospective audit was performed identifying patients presenting to Taranaki Base Hospital from 1 January 2015 to 31 December 2015 with a first seizure. RESULTS: Thirty-seven patients presented with their first seizure with 50% found to have an easily reversible precipitant. Forty-three percent had a history of previous brain insult and 52% had an abnormality identified on neuroimaging. Only 14% received formal neurology follow-up and only 8% had electroencephalography. Forty-three percent received chronic antiepileptic drug therapy and 27% had a recurrent seizure within 12 months. Only 43% had documented driving advice. CONCLUSIONS: The incidence of first seizure presentation to Taranaki Base Hospital is similar to worldwide data. In general, patients receive basic investigations in keeping with international guidelines. This audit has helped to identify a number of areas to address with the current service provision, including ways to improve access to important investigations and ways to develop a guideline to standardise care.

An audit on the appropriate use of faecal calprotectin testing within the Taranaki DHB: a case for a more discerning approach.

AIMS: Faecal calprotectin (FC) is a recognised marker for excluding inflammatory bowel disease (IBD). However, it is often not used appropriately. This audit aimed to identify the rate of its use of in Taranaki, along with attempting to assess how appropriately it is used and overall utility. METHODS: A list of FCs performed in Taranaki from July 2013 to December 2013 was obtained. Notes were examined, identifying the indication, its outcome, and a decision made whether or not the test added any benefit. RESULTS: 206 patients were identified. A large number (n=75) were excluded due to inadequate clinical information. Of the remaining 131 patients, 37% (n=49) did not benefit. 22% (n=29) avoided further investigation with a negative result. 91% of patients with previously known IBD avoided invasive investigation with a negative result. There was a strong correlation between very high levels (>500 mg/g) and a diagnosis of IBD (88%), as well as a strong correlation between lower levels (<200mg/g) and excluding IBD (86%). CONCLUSIONS: FC remains useful to exclude IBD, and can assist in patients with established disease. However, in a significant percentage, the test adds no value. The absolute level of FC may also assist diagnosis. More research is needed, and more education is recommended.