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It is currently hypothesised that a combination of genetic and environmental factors underlies the development of idiopathic isolated dystonia (IID). In this study, we examined several possible environmental or other non-genetic factors that may influence the risk for IID in Queensland, Australia. We surveyed several environmental exposures, lifestyle factors, medical and family histories to investigate potential risk factors for IID. Associations between putative risk factors and IID were assessed using a total of 184 dystonia patients and 1048 neurologically-normal control subjects sampled from Queensland between 2005 and 2012. Our analyses revealed that anxiety disorders, depression, tremor, cigarette smoking and head injuries with a loss of consciousness were associated with increased risk for IID (p<0.05), all of which remained statistically significant following an adjustment for multiple hypothesis testing except for depression. We also observed that the risk for dystonia increased with higher cigarette smoking pack-year quartiles in our analyses. Our results suggest possible environmental factors that influence the development of IID and complement the findings of similar dystonia risk factor studies. Further investigation defining the environmental and other non-genetic risk factors for IID may provide insight into the development of the disorder in genetically-susceptible individuals., (Copyright © 2014 Elsevier Ltd. All rights reserved.)

Recent whole genome association studies provided little evidence that polymorphisms at the familial Parkinsonism loci influence the risk for Parkinson's disease (PD). However, these studies are not designed to detect the types of subtle effects that common variants may impose. Here, we use an alternative targeted candidate gene approach to examine common variation in 11 genes related to familial Parkinsonism. PD cases (n = 331) and unaffected control subjects (n = 296) were recruited from three specialist movement disorder clinics in Brisbane, Australia and the Australian Electoral Roll. Common genetic variables (76 SNPs and 1 STR) were assessed in all subjects and haplotype, genotype, and allele associations explored. Modest associations (uncorrected P < 0.05) were observed for common variants around SNCA, UCHL1, MAPT, and LRRK2 although none were of sufficient magnitude to survive strict statistical corrections for multiple comparisons. No associations were seen for PRKN, PINK1, GBA, ATP13A2, HTRA2, NR4A2, and DJ1. Our findings suggest that common genetic variables of selected PD-related loci contribute modestly to PD risk in Australians., ((c) 2009 Movement Disorder Society.)

Familial Parkinsonism (PARK) genes are strong candidates for conferring susceptibility to common forms of PD. However, most studies to date have provided little evidence that their common variants substantially influence disease risk. Recently, mutations were described in the gene, GIGYF2 (TNRC15), located at the PARK11 locus (2q37.1). Here, we use a haplotype tagging approach to examine common variation in the GIGYF2 gene and PD risk. PD cases (n = 568) and age and gender-matched control subjects (n = 568) were recruited from three specialist movement disorder clinics in Brisbane (Australia) and the Australian electoral roll. Twelve tagging SNPs were assessed in all subjects and haplotype and genotype associations were explored. Overall our findings suggest that common genetic variants of GIGYF2 do not significantly affect sporadic PD risk in Australian Caucasians., ((c) 2008 Movement Disorder Society.)

Motor and non-motor fluctuations are well known sequelae of dopaminergic therapies for Parkinson's disease (PD), particularly during the advanced stages. However, the prevalence of fluctuations early in the treatment course has been less well recognised and may be missed clinically if not specifically probed. We examined the used of a survey for this purpose. Patients to be surveyed were recruited by neurologists and geriatricians at 20 Australian centres. Patients had a diagnosis of idiopathic PD with a duration of fewer than 5 years and were considered by their treating physician to be non-fluctuating or had no change in their treatment plan in the prior 6 months. Patients, with or without assistance, completed a 19-item wearing-off questionnaire to assess the presence of motor and non-motor fluctuations that indicated early wearing-off. Investigators assessed the usefulness of the questionnaire in detecting fluctuations and guiding PD treatment. Of 105 patients recruited, 92 were eligible for analysis. There were 56 (61%) identified as having fluctuations. Patients with wearing-off were younger (mean 67 vs 72 years), and more likely to have had PD for more than 3 years. About half the patients (49%) were able to complete the questionnaire independently. Clinicians perceived the questionnaire as useful for detecting fluctuations and adjusting treatment. A simple and easily administered wearing-off questionnaire may be useful in the early detection of fluctuations in PD patients and assist in guiding therapy.

The study of family history in Parkinson's disease (PD) has resulted in considerable debate over the role of genetic factors in the development of PD. Despite this, family history is consistently identified as an independent risk factor for PD. A multifactorial disease process in which genetic, environmental and lifestyle factors culminate in overall risk seems most likely. This article reviews existing studies of familial aggregation in PD. Recent insights into rare genetic causes of PD have affirmed the importance of ongoing family history research. Future efforts should emphasise well-designed family studies with extensive, non-exclusive phenotyping and ideally long-term follow-up.

Rasmussen's syndrome, a syndrome of chronic focal encephalitis, is usually considered to be a disease of childhood. Typical features include intractable focal seizures and progressive unilateral neurological deficits with radiological evidence of focal cortical atrophy. This report documents the case of the oldest patient yet described in the literature with Rasmussen's syndrome. Magnetic resonance imaging revealed gadolinium enhancing tissue, not previously described in this condition., (Copyright 2000 Harcourt Publishers Ltd.)

A 39-year-old woman with systemic lupus erythematosus suffered a prolonged neurological illness associated with very low levels of glucose in her cerebrospinal fluid (CSF). Six months later, and after numerous CSF investigations, Histoplasma capsulatum was cultured. To our knowledge, this is the first report of cerebral histoplasmosis in Australia in a patient who is not HIV positive.

We report a family with Noonan syndrome (NS), giant proximal nerve hypertrophy, and hereditary motor sensory neuropathy type 1A (HMSN1A). Five members of a family were found to have clinical features of NS. In all cases, NS was associated with giant hypertrophy of proximal nerves and two individuals also exhibited café-au-lait spots. In one case, an 8-to-10-cm diameter pelvic mass was shown to be a grossly hypertrophied nerve, with histologic features of demyelination and remyelination. In addition, four of five family members affected with NS were found to have HMSN1A clinically and by demonstration of constitutional HMSN1A duplication on DNA testing. Linkage analysis for NS ruled out the involvement of the neurofibromatosis type 1 gene and the known NS locus in chromosome 12, supporting the existence of an additional NS locus.

Three cases of deep cerebral vein thrombosis presenting as encephalitic illnesses are described. Thyrotoxicosis was present in one case, ulcerative colitis in one case and an anticardiolipin antibody was detected in two cases. All three patients were on oestrogen and progesterone. Magnetic resonance imaging and angiography allowed rapid confirmation of the diagnosis and permitted non-invasive follow up of this condition. The first two patients made complete clinical recoveries despite having thalamic infarction, in one case bilaterally, demonstrable radiologically.

Congenital malformations may present as meningitis caused by enteric organisms, but this is extremely rare and occurs almost exclusively in the paediatric population. We report an unusual case of a young man with chronic constipation presenting with spontaneous Gram-negative meningitis due to an underlying congenital spinal malformation known as the caudal regression syndrome.

Objective: To present a case of adult botulism acquired in Queensland., Clinical Features: After eating home-preserved asparagus, a 33-year-old man presented with internal and external ophthalmoplegia, bilateral facial nerve palsies, and descending muscle weakness culminating in a sudden respiratory arrest. Electrophysiological testing demonstrated normal nerve conduction velocities and an incremental response of evoked motor potentials on repetitive stimulation, confirming the clinical diagnosis of botulism., Intervention and Outcome: Treatment with trivalent antitoxin, oral treatment with vancomycin and supportive mechanical ventilation for four weeks resulted in complete clinical recovery. Plasmapheresis was also used but its contribution to the patient's improvement is dubious., Conclusions: Although botulism is rare in Australia, clinicians should be aware of the clinical presentation and the rapidity of confirmation of the diagnosis by electrophysiological testing. Patients should be nursed in an intensive care setting. Regular testing of vital capacity should be performed to determine the need for mechanical ventilation.

Status epilepticus, especially the convulsive type, is a medical emergency. Initial treatments include clearing the airway and giving diazepam intravenously (preferably) or rectally. Clonazepam is equally effective. A loading dose of phenytoin should be given to maintain seizure control.

Three patients who developed typical features of dialysis encephalopathy following renal transplantation are presented. No patient had evidence of overt neurological dysfunction pretransplantation. All patients were taking cyclosporine at the time of onset of neurological disease. Two patients died as a result of their neurological condition. The third patient made a satisfactory recovery. Factors responsible for the onset of dialysis encephalopathy in the renal posttransplantation period are discussed. We propose that cyclosporine may have been an important precipitating factor of the neurological syndrome of these patients.

A 24 year old woman presented with generalised livedo reticularis and progressive intellectual decline. A CT scan of her head showed multifocal low density areas, consistent with cerebral infarction. Cerebral angiography revealed occlusive disease of major vessels, an arteriovenous malformation, and moya-moya type anastomoses. There was no other associated systemic illness. Sneddon's syndrome was the provisional diagnosis. Her older brother had the same skin condition and was also shown to have occlusive cerebrovascular disease. The pathogenesis and natural history of this uncommon disease are highlighted.

Fourteen of 100 geriatric nursing home patients were shown to have evidence of carotid sinus hypersensitivity. The incidence of syncope and falls was noted in prospective follow-up over 33 months. Falls were classified as either simple or complicated by laceration or fracture. Patients experienced simple falls at similar rates whether carotid sinus hypersensitivity was present or absent. For patients with carotid sinus hypersensitivity, the risk of a laceration was increased more than twofold, that of fracture more than threefold, and that of syncope tenfold. Carotid sinus hypersensitivity warrants greater attention as a contributory factor to serious falls and syncope in the elderly; and its importance may have been underestimated in the past.

In this paper seven cases of severe viral encephalitis seen over a four year period at the Princes Alexandria Hospital, Brisbane, are presented. Four of these cases were proven cases of Herpes simplex encephalitis on the basis of viral culture, and three were probable cases of Herpes simplex encephalitis on the basis of rising serum antibody titres. A summary of the clinical aspects and laboratory investigations of the cases is followed by a brief discussion of the diagnostic and therapeutic problems of this condition.

Low levels of circulating immune complexes were detected in 42% of 50 patients with myasthenia gravis. Although a number of these had other associated autoimmune disorders, 30% of patients with no clinical evidence of other disorders were positive in the assays used. The nature of the antigen or antigens in the complexes is not known. However, no binding of alpha-bungarotoxin (a specific probe for the acetylcholine receptor) to the complexes was observed. No correlation of presence of complexes and duration or severity of disease or antibody titres to the acetylcholine receptor was found.

Isolated fracture through the atlanto-occipital region is not common and can easily be missed, clinically and radiologically. The long-term outlook from an isolated twelveth nerve palsy has been good in our experience of two cases.

This report describes the clinical features of 13 cases of periodic, paroxysmal cerebellar ataxia. A family history suggestive of an autosomal dominant disorder was present in 10 cases, the first two reported Australian families involved with this disorder. Variation in the age of onset, frequency of attacks and the presence of distinct symptom complexes within one kindred confirm the heterogeneous nature of this disorder. CT head scans were performed on nine cases and were normal in eight. EEG findings were abnormal in six of nine performed. Treatment with acetazolamide resulted in abolition of paroxysms in nine of the 10 treated cases. In addition, two children had dramatic improvement in previously impaired gross and fine motor skills.

Two cases are described in which inversion of the quadriceps jerk was observed. It is suggested that the finding of an inverted quadriceps jerk is evidence of a spinal cord lesion at 12, 3, 4 segmental level and has for the lumbar cord the same localising value as the inverted supinator jerk for the cervical cord.

Two patients had a steadily progressive disorder of higher cortical function dominated by the early development of cortical visual deficits. In one, a right visual inattention progressed over a period of 2 years to a complete right homonymous hemianopia and relative left inferior quadrantanopia. In the second case, blind in the left eye for unrelated reasons, a temporal field loss was noted at presentation in the right eye, with the subsequent development of field loss in the inferior nasal quadrant on that side. Features of Balint's syndrome developed in both patients, with sticky fixation, ocular dysmetria and simultanagnosia. Prominent associated features were progressive dysmnesia, dyscalculia, ideomotor apraxia and spatial disorientation. Abstract reasoning, speech function and insight were all well preserved. MRI and CT scans revealed no focal abnormalities. These cases are similar to the 5 recently described by Benson et al. The pathological basis is unknown but may be an atypical form of Alzheimer's disease.

The language profile of a group of 18 Alzheimer patients is documented and their performance on a standard aphasia test battery compared to a group of institutionalized, nonneurologically impaired control subjects matched for age, sex, and educational level. The Alzheimer patients scored significantly lower than the controls in the areas of verbal expression, auditory comprehension, repetition, reading, and writing. Articulation abilities were the same in each group. A language deficit was evident in all Alzheimer patients. The language disorder exhibited resembled a transcortical sensory aphasia. Syntax and phonology remained relatively intact but semantic abilities were impaired. The results support the inclusion of a language deficit as a diagnostic criterion of Alzheimer's disease.