Colm Treacy

The purpose of this study was to characterise a novel family with very slowly progressive pure spinocerebellar ataxia (SCA) caused by a deletion in the inositol 1,4,5-triphosphate receptor 1 (ITPR1) gene on chromosome 3. This is a detailed clinical, genetic, and radiological description of the genotype. Deletions in ITPR1 have been shown to cause SCA15/SCA16 in six families tow date. A further Japanese family has been identified with an ITPR1 point mutation. The exact prevalence is as yet unknown, but is probably higher than previously thought. The clinical phenotype of the family is described, and videotaped clinical examinations are presented. Serial brain magnetic resonance imaging studies were carried out on one affected individual, and genetic analysis was performed on several family members. Protein analysis confirmed the ITPR1 deletion. Affected subjects display a remarkably slow, almost pure cerebellar syndrome. Serial magnetic resonance imaging shows moderate cerebellar atrophy with mild inferior parietal and temporal cortical volume loss. Genetic analysis shows a deletion of 346,487 bp in ITPR1 (the second largest ITPR1 deletion reported to date), suggesting SCA15 is due to a loss of ITPR1 function. Western blotting of lymphoblastoid cell line protein confirms reduced ITPR1 protein levels. SCA15 is a slowly or nonprogressive pure cerebellar ataxia, which appears to be caused by a loss of ITPR1 function and a reduction in the translated protein. Patients with nonprogressive or slowly progressive ataxia should be screened for ITPR1 defects. (C) 2010 Movement Disorder Society

Prostate cancer is the most common cancer to affect men in the UK. Treatment options depend on the grade of tumour, the patient’s co-existing diseases and choice of treatment. One potentially curative option is surgery, specifically a radical retropubic prostatectomy or variation thereof. As a consequence of the surgery, men commonly experience two side-effects: urinary incontinence and erectile dysfunction (ED). This paper outlines the clinical management of ED following surgery and aims to provide an overview of how to assess a man who has developed ED and discuss the various treatment options available, along with the efficacy in terms of recovery of erections.

The progressive ataxias are a heterogenous group of neurological disorders comprising conditions that result in disturbances of coordinated movements. Ataxia patients can face numerous difficulties in everyday life. A multidisciplinary approach to care is important, including the role of the clinical nurse specialist. Nurses can provide an important link between health and social care professionals involved in a patient's care. Their role includes assessment of daily living and making referrals to appropriate professional support. The development of specialist centres of excellence for the diagnosis and management of people with ataxia can bring important benefits to the management and quality of life of patients.

‘Person-centred care’ is a term frequently used by organizations to describe the aims and objectives of dementia care but, in reality, the term is often misused and ill-defined because the care for people with dementia, especially long-term care, is anything but person-centred. The traditional overemphasis on pathologizing dementia, based on physical brain changes and hitherto task oriented approaches, often overlooks the unique and personal human experiences and ignores the important infl uence of social and physical environments in the care and management of patients. The development of patient-centred care, in its true sense, has therefore led to a new culture in the way we look at the needs of people with dementia.

This article provides a description of the progressive ataxias and how such a diagnosis impacts on a person's life. The nurse's role in helping these patients, who can face numerous difficulties in everyday life, is highlighted. Moreover, the authors discuss the development of Ataxia Specialist Centres of Excellence for the diagnosis and management of people with ataxia, and the benefits believe these centres will bring to the care of these patients.

Urinary retention is a common complication of surgery and anaesthesia. The risk of post-operative urinary retention is increased following certain surgical procedures and anaesthetic modalities, and with patients' advancing age. Patients at increased risk of post-operative urinary retention should be identified before surgery or the condition should be identified and treated in a timely manner following surgery. If conservative measures do not help the patient to pass urine, the bladder will need to be drained using either an intermittent catheter or an indwelling urethral catheter, which can result in catheter-associated urinary tract infections. This article provides an overview of normal bladder function, risk factors for developing post-operative urinary retention, and treatment options. Guidance drawn from the literature aims to assist nurses in identifying at-risk patients and inform patient care.

The largest kindred with inherited prion disease P102L, historically Gerstmann-Straeussler-Scheinker syndrome, originates from central England, with emigres now resident in various parts of the English-speaking world. We have collected data from 84 patients in the large UK kindred and numerous small unrelated pedigrees to investigate phenotypic heterogeneity and modifying factors. This collection represents by far the largest series of P102L patients so far reported. Microsatellite and genealogical analyses of eight separate European kindreds support multiple distinct mutational events at a cytosine-phosphate diester-guanidine dinucleotide mutation hot spot. All of the smaller P102L kindreds were linked to polymorphic human prion protein gene codon 129M and were not connected by genealogy or microsatellite haplotype background to the large kindred or each other. While many present with classical Gerstmann-Straeussler-Scheinker syndrome, a slowly progressive cerebellar ataxia with later onset cognitive impairment, there is remarkable heterogeneity. A subset of patients present with prominent cognitive and psychiatric features and some have met diagnostic criteria for sporadic Creutzfeldt-Jakob disease. We show that polymorphic human prion protein gene codon 129 modifies age at onset: the earliest eight clinical onsets were all MM homozygotes and overall age at onset was 7 years earlier for MM compared with MV heterozygotes (P = 0.02). Unexpectedly, apolipoprotein E4 carriers have a delayed age of onset by 10 years (P = 0.02). We found a preponderance of female patients compared with males (54 females versus 30 males, P = 0.01), which probably relates to ascertainment bias. However, these modifiers had no impact on a semi-quantitative pathological phenotype in 10 autopsied patients. These data allow an appreciation of the range of clinical phenotype, modern imaging and molecular investigation and should inform genetic counselling of at-risk individuals, with the identification of two genetic modifiers.