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Fragile X-associated tremor/ataxia syndrome (FXTAS) and fragile X-associated primary ovarian insufficiency (FXPOI) are definitely related to the fragile X mental retardation 1 ( FMR1 ) premutation (PM). Additional medical problems have also been associated with the PM, such as fibromyalgia, endocrine, and psychiatric disorders. To improve our understanding in the field, we reviewed all PM carriers and their reasons for any medical referrals from 104 fragile X families molecularly diagnosed in our laboratory and living in the Spanish Basque Country. After signing the written informed consent, we studied their electronic medical records in order to identify the disorders associated with the PM and their frequencies. We obtained clinical data in 188 PM carriers (147 women and 41 men). In women, the frequency of FXPOI (22.61%) was similar to that previously reported in PM carriers. In men, the frequency of definite FXTAS (28.57%) was lower than reported elsewhere. Furthermore, thyroid pathology was associated with the PM, the frequency of hypothyroidism being much higher in the studied region than in the general population (8.84% vs. 0.93%). Finally, we found no association with fibromyalgia or psychiatric problems. These findings represent another population contribution in this field and may be useful for the clinical management of PM carriers., Competing Interests: The authors declare no conflict of interest. The funding sponsors had no role in the design of the study; in the collection, analyses, or interpretation of data; in the writing of the manuscript; or in the decision to publish the results.

We describe a 62-year-old man with a sporadic form of hyperekplexia who presented with an unsteady gait, present since the age of 47. His clinical examination revealed an insecure broad-based gait and difficulty with tandem walking but no other abnormalities. For nearly a decade the patient was misdiagnosed with an idiopathic ataxia. A video electroencephalogram combined with an electromyogram during sudden auditory stimulus demonstrated an excessive startle response. An extensive work-up ruled out all the known causes of symptomatic hyperekplexia including anti-glycine receptor antibodies. Treatment with clonazepam markedly reduced the threshold and intensity of the startle response, enabling him to recover independence. Hyperekplexia is frequently associated with an awkward and hesitating gait, but these gait abnormalities might be confused with other causes of gait disorders if one is not aware of this disease. We report this patient to highlight that a correct diagnosis of hyperekplexia is crucial, because its treatment may change quality of life., (Copyright © 2013 Elsevier Ltd. All rights reserved.)

The objective of this study is to assess how the non-motor symptoms of Parkinson's disease (PD), such as depression, cognitive deterioration, neuropsychiatric and sleep disorders, affect the quality of life, and to compare them with the motor symptoms in order to determine their real impact. A cross-sectional study was designed including 99 patients (mean age 68.5 ± 9.9 years, duration of disease 8.7 ± 6.2 years). Demographic data, onset of PD, years on treatment with levodopa (LD), class of dopaminergic drug prescribed, and dosages were obtained. The following scales were used: quality of life (PDQ-39), Unified Parkinson's Disease Rating Scale (UPDRS I-IV), Parkinson Disease Sleep Scale (PDSS) and daytime sleepiness (Epworth), Mini-Mental State Examination, depression (HAM-D), and the neuropsychiatric inventory (NPI-10). The PDQ-39 summary index (PDQ-39 SI) was 24.7 ± 13.2. A linear regression model including all variables showed that four independent variables accounted for 67.2% of the variance in the PDQ-39 SI (F = 33,277; p < 0.001): NPI, PDSS, UPDRS IV, and UPDRS I. When sub-items of the NPI, PDSS and UPDRS IV scales are analyzed, significant correlations (p < 0.001) are found between the PDQ-39 SI and depression, agitation, apathy, anxiety, hallucinations, delusions, incontinence of urine, morning painful posturing, restlessness in bed, morning fatigue, duration of off periods, unpredictable and predictable off periods, early morning dystonia, and sudden off periods. Neuropsychiatric symptoms, especially depression, nighttime sleep disorders such as urinary incontinence, nighttime restlessness, morning fatigue and somnolence, off-period dystonia and motor fluctuations are the variables that most affect the quality of life of patients with PD.

Introduction: A large proportion of patients with Parkinson's disease suffer fluctuations and dyskinesias in the course of the disease. The present study explores the variables that predict the appearance of these complications., Patients and Methods: This is a cross-sectional study that studies 285 patients with Parkinson's disease. Patient's age, date of diagnosis and of treatment with levodopa and motor situation (UPDRS III) were recorded. Drugs and doses were documented. Finally, levodopa equivalent dose in those patients using agonists or prolonged release formulations was calculated., Results: Mean age of the patients was 71.1 years (+/-9.1). Disease duration was 8.7 years (+/-11.8). A total of 118 patients (41.4%) presented motor fluctuations, and 61 patients (21.4 %) had dyskinesias. Two discriminant analytical models were established. In the first model, the dependent variable was the presence of fluctuations, and three variables significantly discriminated between the two groups: the levodopa equivalent dose, the duration of treatment with levodopa and the motor situation. In the second model the presence of dyskinesias constituted the dependent variable. The only variable selected by this model was the levodopa equivalent dose., Discussion: The duration of treatment with levodopa, the doses of agonists and levodopa and the motor situation differentiate patients with fluctuations from those without them. In the case of dyskinesias, only the agonists and levodopa doses were selected by the analytical model.

The present study explores the frequency of RLS in PD and focuses on the clinical differences between patients with and without restless legs syndrome (RLS). A cross-sectional study was designed, comprising 114 patients diagnosed with PD. Those patients positive for RLS were assessed for intensity of the syndrome (IRLS). We compared the clinical characteristics of the patients with and without RLS, using specific scales: Unified Parkinson's Disease Rating Scale (UPDRS I-IV), quality of life (Parkinson's Disease Questionnaire, PDQ 39), sleep symptoms (Parkinson's Disease Sleep Scale, PDSS), and diurnal hypersomnia (Epworth Sleepiness Scale). Twenty-five patients (21.9%) out of a total of 114 subjects diagnosed with PD met the RLS diagnostic criteria. RLS was more frequent in women (68%). The patients with RLS showed poorer scores on the PDSS (PD-RLS+: 102.4 +/- 15.1 vs PD-RLS-: 113.2 +/- 16.4) (P = 0.005) and in the bodily discomfort dimension of the PDQ-39 (PD-RLS+ 6.1 +/- 3.4 vs PD-RLS- 3.8 +/- 2.6) (P = 0.002). Analysis of the subscales of the PDSS showed significant differences (P < 0.001) between both groups of patients in items 4 and 10, and to a lesser degree in items 5 (P = 0.01) and 11 (P = 0.02) There was no increased incidence of diurnal hypersomnia in the group of patients with RLS. There were no differences in the rest of the variables. RLS is frequent in patients with PD, though this condition doesn't apparently affect quality of life or lead to an increased presence of diurnal hypersomnia. It would be advisable to validate the diagnostic criteria of RLS in this specific group of patients., (2007 Movement Disorder Society)

The aim of this research was to quantify sleep problems in patients suffering from Parkinson's disease by means of the new Parkinson's Disease Sleep Scale (PDSS) and to correlate such problems with the possible influence of current drug treatment. A total of 70 patients (36 men and 34 women) with a diagnosis of Parkinson's disease were enrolled. Their mean age was 69.7 +/- 8.2 years, and duration of disease was 7.4 +/- 4.8 years. All patients completed the PDSS and the Unified Parkinson's Disease Rating Scale (UPDRS Parts I-IV). Drug consumption and doses were registered. The mean score on the PDSS scale was 109.23 +/- 19.75 and on the UPDRS III scale was 25.24 +/- 11.35. The lowest scores were obtained in Item 3 (sleep fragmentation): 5.53 (2.46); and in Item 8 (nocturia): 5.75 (2.91). There was a weak correlation between the PDSS and UPDRS III (cc = -0.355, P = 0.003), PDSS and UPDRS I (cc = -0.272, P = 0.02), and PDSS and UPDRS IV (cc = -0.416, P < 0.001). Motor conditions, mental state, and drug complications influence sleep quality. Although this effect was significant, it was not of a great magnitude. Dopaminergic drugs did not increase daytime sleepiness. As a whole, sleep quality in patients who took dopaminergic agonists did not differ from that of patients who took levodopa in monotherapy., ((c) 2006 Movement Disorder Society.)

Introduction: The aim of this study is to show if the exploration of the autonomic nervous system is useful to improve the specificity of clinical criteria of Parkinson's Disease (PD) and Multiple System Atrophy (MSA)., Patients and Methods: 20 patients with PD and 13 patients with MSA were studied. After 12 hours in off medication, NE and GH were measured in supine position and NE after 5 minutes standing. Later, GH levels were recorded at 15, 30, 45 and 60 minutes after a dose of 0.005 mg/kg of apomorphine. Finally, analysis of the symptoms of autonomic dysfunction and levodopa test were carried out., Results: Sympathetic response to postural changes was significantly higher in patients with PD (NE increase in relation to basal: PD: 170.90 +/- 110.08 pg/ml; MSA: 91.33 +/- 73.79 pg/ml; p = 0.029). No differences were found in the response of GH to apomorphine (GH peak at 45 minutes: PD: 2.37 +/- 2.7 ng/ml; MSA: 1.69 +/- 1.90 ng/ml; ns). The symptoms of autonomic dysfunction were more frequently in patients with MSA. The stridor was specific to MSA. Improvement in motor scores in the levodopa test was higher in patients with PD (PD: 39.7 %; MSA: 17.89; p = 0.019)., Discussion: Sympathetic response to postural changes, description of symptoms of autonomic dysfunction, and motor response to levodopa test are useful tools in order to improve specificity of the diagnostic criteria of PD and MSA. The GH test with apomorphine was not useful for a differential diagnosis.

Twelve patients with Parkinson disease and psychosis were included in an open-label 12-week trial of ziprasidone. Two patients withdrew from the treatment because of adverse effects. The remaining 10 patients reported a significant improvement in psychiatric symptoms. Altogether, there was no deterioration of motor symptoms (UPDRS III score: basal 40.4 +/- 11.1, first month 41.1 +/- 10.8; final visit, 37.7 +/- 13.3). Two patients (20%) suffered a slight deterioration in motor symptoms and another patient suffered deterioration of gait. No analytic alterations or serious adverse effects that could limit the use of ziprasidone were observed. Although controlled trials are needed, the findings suggest that ziprasidone may be effective in parkinsonian patients with psychosis.

We report the case of a 43-year-old female patient that had a subacute loss of visual acuity on her left eye, initially lacking any additional symptom or sign of intracranial hypertension. She was diagnosed and studied as an optic neuropathy. The cranial MR was normal and it did not show changes on the signal of the optic nerve. The patient did not improve with steroidal treatment. She was re-admitted three months later due to cephalalgia without any modification of the visual symptomatology. On this occasion a high intracranial pressure (400 mmH20) was recorder on lumbar tap. A thrombosis of the right transverse sinus with an associated complex dural arterio-venous fistula, was visualized at the Angio-MRI and cerebral arteriography. We suggest a relationship between optical neuropathy and dural arterio-venous fistula. We also discuss the attitude with regard to patients suffering from optic neuropathies and endocranial hypertension of uncertain origin.