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Background: Spinocerebellar ataxia type 12 (SCA12) is a rare form of an autosomal-dominant ataxic disorder associated with an expansion of CAG repeat length. Here, we present a large case series of patients with SCA12 and describe a wide range of typical and rare symptoms. Methods: Twenty-one consecutive patients with genetically proven SCA12 underwent detailed neurological examination. We assessed clinical characteristics using validated rating scales for evaluating motor features in SCA. Nonmotor symptoms and quality of life were assessed using appropriate, validated scales. Correlations of CAG repeat length with both severity score and age of onset were explored. Results: The mean age of onset was 51 years, and most patients were descendants of a single, endogamous Indian community (Agarwal). Tremor was the most common initial presenting symptom (90%). Hand dystonia was present in 14 of 21 patients, and most patients in the cohort presented with gait disturbance. Neuropsychiatric manifestations were common coexisting features. The CAG repeat length was significantly correlated (r = À0.760; P = 0.0001) with early age of onset, but not with disease severity. Tremor affected the quality of life in 18 of 21 patients, because they had difficulty in handling liquids. Conclusions: Tremor was the most common, nonataxic symptom at initial presentation in patients with SCA12. Proximal upper limb tremor, typically with high amplitude and low frequency, can raise a strong diagnostic suspicion. Associated hand dystonia was a common coexisting motor feature. Various nonmotor features were also observed in several cases which require therapeutic attention.

Neurorehabilitation aims to induce beneficial neural plasticity in order to restore function following injury to the nervous system. There is an increasing evidence that appropriately timed functional electrical stimulation (FES) can promote associative plasticity, but the dosage is critical for lasting functional benefits. Here, we present a novel approach to closed-loop control of muscle stimulation for the rehabilitation of reach-to-grasp movements following stroke and spinal cord injury (SCI). We developed a simple, low-cost device to deliver assistive stimulation contingent on users’ self-initiated movements. The device allows repeated practice with minimal input by a therapist, and is potentially suitable for home use. Pilot data demonstrate usability by people with upper limb weakness following SCI and stroke, and participant feedback was positive. Moreover, repeated training with the device over 1–2 weeks led to functional benefits on a general object manipulation assessment. Thus, automated FES delivered by this novel device may provide a promising and readily translatable therapy for upper limb rehabilitation for people with stroke and SCI.

AimsTo describe the distribution of Acute Rheumatic Fever (ARF) using deprivation and ethnicity, utilising cases in the Bay of Plenty District Health Board, New Zealand.BackgroundARF has a significant associated morbidity and mortality. Thorough understanding of epidemiological associations is important for risk assessment and intervention targeting. The Bay of Plenty (BOP) region in New Zealand (NZ) has a high rate of ARF (34/100,000) and is therefore a useful population to study this disease.MethodWe undertook a retrospective cohort study of those with a principle diagnosis of ARF from 2000–2015 using the NZNHF and Cardiac Society of ANZ criteria 2006–2014. Comparison was made between incidence, ethnicity (Maori, Pacific, European) and deprivation based on residential location (scored using the NZ Deprivation Index 2006 (NZ DEP); 1=least deprived, 10=most deprived). The eastern region (EBOP) was also compared with the western region (WBOP). Data was sourced from medical and 2013 census records.Results156 cases were identified, average age 12.6 (2–43), 72% were male (n=113). Increased deprivation was associated with increased incidence of ARF; 49% (n=76) of all cases were found in decile 10 (most deprived), and 12.2% (n=19), were in deciles 1–5. Maori ethnicity represented 90% of cases (35x increased risk compared with non-Maori). The WBOP had a lower general deprivation compared with the EBOP (WBOP=5.9, EBOP=7.3) and average ARF case deprivation reflected this (WBOP 7.0, EBOP=9.4). Further, WBOP ARF cases (n=55) showed a more spread distribution (NZ DEP 1–5; WBOP=25%, EBOP=6%). Maori ethnicity maintained a strong association with ARF cases in the WBOP despite lower deprivation (r=0.98).DiscussionARF risk was associated with increased deprivation and Maori ethnicity conferred a high risk independently to deprivation. Our results highlight to professionals working with children, including those in the UK, that although ARF is a disease strongly associated with deprivation, social risk factors may be operating irrespectively and should be considered when determining risk.