Atypical and early symptoms of sporadic Creutzfeldt - Jakob disease: case series and review of the literature.

BACKGROUND: Prion diseases are rapidly progressive fatal conditions caused by abnormally shaped proteins. Sporadic Creutzfeldt - Jakob disease (sCJD) is the most common human prion disorder accounting for 85-90 % of cases. Clinical manifestations include rapidly evolving dementia in conjunction with neurological symptoms such as ataxia, myoclonus, pyramidal and extrapyramidal signs. However, the early symptoms of the disease are often non-specific and mental disorder is delayed, making the diagnostic process difficult and challenging. PATIENTS AND METHODS: We present 3 cases with atypical early symptoms and late onset of cognitive decline. The first case presented with isolated visual symptoms (Heidenhain variant), the second patient had isolated anomic aphasia and the third one non-convulsive status epilepticus. A review of the past literature concerning the atypical and rare early clinical features of the sCJD was conducted. RESULTS: The following manifestations were found: psychiatric and visual symptoms, which are relatively common, epileptic seizures, otologic symptoms and presentation of sCJD as an acute vascular event. Moreover, language, communication and writing impairments, movement disorders, symptoms from the peripheral nervous system and bulbar signs were reported as well. CONCLUSION: Increased clinical suspicion, along with the aid of existing diagnostic methods and the development of novel techniques could contribute to a better understanding of the disease's pathophysiology, early and accurate diagnosis and improvement of patient management.

The Parkinson fatigue scale: an evaluation of its validity and reliability in Greek Parkinson's disease patients.

OBJECTIVE: Fatigue is one of the most frequent and important nonmotor symptoms of patients with Parkinson disease (PD), affecting quality of life. Although, in some cases, it may be a severe and debilitating complaint, it remains relatively unexplored. The PFS-16 is a fatigue measure, specifically designed for PD patients. The aim of this study was to investigate the psychometric properties of Parkinson fatigue scale (PFS-16) in Greek PD patients. METHODS: In total, 99 patients with PD were assessed. The following psychometric properties were tested: data quality, floor/ceiling effects, reliability (internal consistency, test-retest reliability), and construct validity. Construct validity was evaluated by examining correlations with other variables including other fatigue measures such as Fatigue Severity Scale (FSS) and the vitality scale (SF-VT) of SF-36. Moreover, assumptions were explored about "known" groups concerning fatigue. RESULTS: The mean score for the PFS-16 was 2.95 (± 0.91); acceptability was good with negligible floor and ceiling effects. Results showed high internal consistency (Cronbach's alpha, 0.96) and test-retest reliability (ICC, 0.93). Strong correlations were observed between the PFS-16 and other fatigue (FFS and SF-VT) measures (rs = 0.77 and - 0.70, p < 0.001), revealing appropriate validity. Furthermore, predictions for "known" groups validity were verified. CONCLUSION: The Greek version of the PFS-16 showed satisfactory reliability and validity and thus can be regarded as a useful tool in assessing fatigue in PD.

Paraneoplastic cerebellar degeneration in a patient with breast cancer associated with carbonic anhydrase-related protein VIII autoantibodies.

Paraneoplastic cerebellar degeneration is a neurological syndrome resulting from immune-mediated dysfunction of Purkinje cells and commonly is associated with a tumor. In most cases, well-characterized onconeural antibodies are detected, such as anti-Yo and anti-Ri antibodies. Carbonic anhydrase-related protein VIII (CARP VIII) antibodies associated with paraneoplastic cerebellar degeneration have been previously described in only two cases. Herein, we present a 75-year-old female who developed progressive cerebellar ataxia. Anti-CARP VIII autoantibodies were found at high titres and screening for underlying malignancies revealed a breast cancer. Intravenous immunoglobulin was administered with poor results. Our report further confirms the role of CARP VIII antibodies in cerebellar degeneration.

Multiple Sclerosis Patients Valuing Their Own Health Status: Valuation and Psychometric Properties of the 15D.

An ongoing debate on decision and cost-utility analyses is whether to use preferences of general public or patients. The aim of this study was to replicate the valuation procedure of the multi-attribute utility generic measure, 15D, using a sample of multiple sclerosis (MS) patients and to assess its psychometric properties. Consecutive outpatient MS patients were recruited from two MS centers in Greece. The three-stage valuation procedure was applied and, with the use of elicited preference weights, an MS patients' algorithm was developed. The original Finnish value set derived from healthy individuals was also used to calculate scores and a comparison between the two algorithms was made. A total of 64 MS patients were evaluated. The 15D scores obtained with the MS patients' valuation algorithm were higher than the original one. The derived utilities differed significantly with respect to age, depressive symptoms, Expanded Disability Status Scale score and clinical form. MS patients indicated as most important domains mobility, mental functioning and vitality. Cronbach's alpha was estimated 0.876 and correlations between relevant dimensions of the instruments were moderate to high. The 15D was generally feasible and reliable in patients with MS and the valuation system yielded acceptable psychometric properties.

Miller-Fisher Syndrome: Are Anti-GAD Antibodies Implicated in Its Pathophysiology?

Miller-Fisher syndrome (MFS) is considered as a variant of the Guillain-Barre syndrome (GBS) and its characteristic clinical features are ophthalmoplegia, ataxia, and areflexia. Typically, it is associated with anti-GQ1b antibodies; however, a significant percentage (>10%) of these patients are seronegative. Here, we report a 67-year-old female patient who presented with the typical clinical features of MFS. Workup revealed antibodies against glutamic acid decarboxylase (GAD) in relatively high titers while GQ1b antibodies were negative. Neurological improvement was observed after intravenous gamma globulin and follow-up examinations showed a continuous clinical amelioration with simultaneous decline of anti-GAD levels which finally returned to normal values. This case indicates that anti-GAD antibodies may be associated with a broader clinical spectrum and future studies in GQ1b-seronegative patients could determine ultimately their clinical and pathogenetic significance in this syndrome.