French validation of the Quality of life in Essential Tremor Questionnaire (QUEST) and the Essential Tremor Embarrassment Assessment (ETEA).

Two scales have been developed and validated in English to evaluate the impact of tremor on daily life, namely Quality of life in Essential Tremor Questionnaire (QUEST) and Essential Tremor Embarrassment Assessment (ETEA). The psychometric properties of the French version of these two scales were assessed for 117 patients with head tremor. Both scales showed excellent acceptability, very good internal consistency (Cronbach's alpha coefficient>0.8) and reproducibility (Lin concordance coefficient>0.8), satisfactory external validity and satisfactory sensitivity to change. In conclusion, the French versions of QUEST and ETEA are comprehensive, valid and reliable instruments for assessing patients with head tremor.

Validation of a non-motor fluctuations questionnaire in Parkinson's disease.

INTRODUCTION: Non-motor fluctuations (NMF) in Parkinson's disease (PD) remain poorly recognized but have a high impact on patients' quality of life. The lack of assessment tools limits our understanding of NMF, compromising appropriate management. Our objective was to validate a hetero-questionnaire for NMF in PD patients at different stages of the disease: without treatment, without motor fluctuations, with motor fluctuations. METHODS: We included patients in 15 centers in France. Our questionnaire, NMF-Park, resulted from previous studies, allowing us to identify the more pertinent NMF for evaluation. Patients reported the presence (yes or no) of 22 selected NMF, and their link with dopaminergic medications. The assessment was repeated at one and two years to study the progression of NMF. We performed a metrological validation of our questionnaire. RESULTS: We included 255 patients (42 without treatment, 88 without motor fluctuations and 125 with motor fluctuations). After metrological validation, three dimensions of NMF were found: dysautonomic; cognitive; psychiatric. The sensory/pain dimension described in the literature was not statistically confirmed by our study. DISCUSSION: Our questionnaire was validated according to clinimetric standards, for different stages of PD. It was clinically coherent with three homogeneous dimensions. It highlighted a link between fatigue, visual accommodation disorder, and cognitive fluctuations; and the integration of sensory/pain fluctuations as part of dysautonomic fluctuations. It focused exclusively on NMF, which is interesting considering the described differences between non-motor and motor fluctuations. CONCLUSION: Our study validated a hetero-questionnaire of diagnosis for NMF for different stages of PD.

The hidden face of Wilson's disease.

In brief, the classic form of Wilson's disease (WD) is an autosomal-recessive condition with hepatic, neurologic, psychiatric and systemic manifestations. However, the diagnosis should not be excluded because of a family history consistent with autosomal-dominant transmission. The latest next-generation sequencing (NGS) studies have demonstrated a gap between phenotype and genetic prevalences, and also suggest that WD may still be underdiagnosed. In a majority of WD patients, early recognition and appropriate treatment can result in resolution of symptoms and/or improved quality of life. Thus, finding WD in patients aged>40 years or with thrombocytopenia, hemolytic anemia, unexplained bone pain, amenorrhea, repeated spontaneous abortion or renal lithiasis is of major importance. These symptoms can all be found on their own or in association with mild-to-incapacitating neurological and/or neuropsychiatric manifestations. While brain lesions of the lenticular, midbrain and dentate nuclei are classic, white-matter changes and cortical lesions may also be observed: these are often asymmetrical with frontal lobe predilection and, when extensive, associated with a poor prognosis. These lesions are due mainly to copper deposition, but may also be related to focal accumulation of other metals, such as iron and manganese. A new biological marker called 'relative exchangeable copper' (REC) facilitates diagnosis and familial screening. Patient monitoring is important to ensure treatment adherence, efficacy and tolerability, and to detect rare complications such as copper deficiency induced by chronic copper chelation and hepatocarcinoma in patients with cirrhosis. Currently used treatments are copper chelators and zinc salts. Therapeutic perspectives are liver transplantation, new copper chelators as tetrathiomolybdate, hepatocyte/tissue transfer and gene therapy.

[Compliance with treatment in Wilson's disease: On the interest of a multidisciplinary closer follow-up]. / L'observance dans la maladie de Wilson : intérêt d'un suivi rapproché au long cours.

BACKGROUND: Compliance with treatment is very important for patients who suffer from Wilson's disease, a rare genetic disorder. They can benefit a long-life and effective treatment. The purpose of our study is to identify the level of compliance in Wilson's disease patients and features associated with compliance as well. METHODS: This is a prospective study carried out in the National Reference Center for Wilson Disease (based in Paris and Lyon) over a 8 months period. Patients were evaluated on the first (M0) and last month (M8) with a questionnaire evaluating the number of missed treatment doses, a self-questionnaire collecting the reasons for non-compliance, and analogic scales analyzing the doctor-patient relationship and their behavior towards the treatment. The severity of depression symptoms was investigated by the Beck Depression Inventory (BDI). A detailed phone call interview was conducted by a psychologist every two months to evaluate their compliance and feeling. RESULTS: Thirty-nine patients were included. The mean age of patients was 34 years (±9.9). At M0, 84.6% had a poor compliance with treatment. They were diagnosed more recently (P=0.049) with a higher proportion involving neurological disorders (P=0.007). Age, the type of treatment and the quality of the doctor-patient relationship were not associated with the outcome; 38.5% suffered from depressive symptoms. At M8, 56.8% of patients were poor compliants and 21.6% presented depressive symptoms. CONCLUSION: Wilsons's disease patients have important problems with compliance, without necessary being depressed. A close follow-up may help them become compliant, particularly those with neurological symptoms.

Exchangeable copper: a reflection of the neurological severity in Wilson's disease.

BACKGROUND AND PURPOSE: The severity of Wilson's disease (WD) is linked to free copper accumulating in the liver and brain. Exchangeable copper (CuEXC) is a new technique to determine plasmatic copper and is useful in the diagnosis of WD. It is hypothesized that it may also enable a good evaluation of extra-hepatic involvement and its severity. METHODS: Forty-eight newly diagnosed WD patients were prospectively evaluated using hepatic, neurological, ophthalmological and brain magnetic resonance imaging (MRI) scores. Three phenotypic presentations were distinguished: pre-symptomatic, hepatic and extra-hepatic. CuEXC was determined in addition to standard copper assays before decoppering therapy. Correlations between biological parameters and the different scores were determined and compared in the hepatic and extra-hepatic groups. RESULTS: Extra-hepatic patients had significantly higher CuEXC values than those with the hepatic form (P < 0.0001). The overall ability of CuEXC to separate the two forms was satisfactory, with an area under the curve of 0.883 (95% confidence interval 0.771-0.996) and an optimal threshold for extra-hepatic diagnosis of 2.08 µmol/l (sensitivity 85.7%; specificity 94.1%). In extra-hepatic patients, CuEXC was the only biological marker to be positively correlated with the Unified Wilson Disease Rating Score (r = 0.45, P = 0.016), the Kayser-Fleischer ring score (r = 0.46, P = 0.014) and the brain MRI score (r = 0.38, P = 0.048), but it was not correlated with the hepatic score. CONCLUSIONS: Exchangeable copper determination is useful when diagnosing WD as a value >2.08 µmol/l is indicative of the severity of the extra-hepatic involvement. In the case of purely hepatic presentation, atypical or mild neurological signs, it should encourage physicians to search for lesions in the brain and eyes.

[Ecchymosis as the presenting manifestation of Wilson disease: A case report]. / Ecchymoses diffuses révélant une maladie de Wilson : à propos d'un cas.

INTRODUCTION: The presence of a psychiatric disorder during the course of an organic disease is a common cause of delayed diagnosis. CASE REPORT: We report a 16-year-old girl who was admitted with thrombocytopenia and had a two-year history of neuropsychiatric disorder which was attributed to a difficult family situation. Neurological examination showed a frontal lobe disorder and extrapyramidal manifestations. The thrombocytopenia was attributed to liver cirrhosis. These neurological and hepatic injuries were consistent with a metabolic disease, most likely Wilson disease. This was supported by the presence of a corneal Kayser-Fleischer ring and a decreased ceruloplasmin concentration. An urgent liver transplantation was required due to worsening neurological symptoms. CONCLUSION: Wilson disease is a rare genetic disease caused by copper toxicity. It is characterized by combined hepatic and neurologic damage to varying degrees and can develop at any age. Urgent treatment is required, but the diagnosis may be delayed by prevailing psychiatric symptoms.

[Polyradiculopathy revealing an enteropathy associated T-cell lymphoma in a patient with celiac disease]. / Polyradiculopathie révélant un lymphome T associé à une entéropathie au cours de la maladie coeliaque.

INTRODUCTION: Celiac disease (CD) may be complicated by an enteropathy associated T-cell lymphoma (EATL), but lymphomatous dissemination outside the gastrointestinal tract is uncommon especially to the peripheral nervous sytem. OBSERVATION: We report a 54-year-old CD patient with EATL revealed by subacute polyradiculopathy. DISCUSSION: Peripheral neuropathies associated with CD are generally not polyradiculopathies, but sensorimotor neuropathies. Peripheral neurological complications of non-Hodgkin lymphoma are more frequent with B-lymphoma and a neurological presentation of EATL is very rare. CONCLUSION: This case illustrates the usefulness of searching for EATL in CD patients with polyradiculopathy.

Effect of gabapentin on oculomotor control and parkinsonism in patients with progressive supranuclear palsy.

The efficacy of gabapentin on motor, oculomotor and frontal lobe symptoms was evaluated in patients with progressive supranuclear palsy (PSP) in a pilot study. Fourteen patients were included and seven of them received gabapentin. Clinical evaluation and horizontal eye movement recordings were performed at inclusion and 5-weeks later. Motor score and saccade latency in the visually guided saccade (VGS) task were identical in the two groups. However, the error rate in the antisaccade task was significantly decreased in the gabapentin group. This preliminary study shows that gabapentin improves reflexive saccade inhibition in patients with PSP but does not improve the latency of VGSs.

[Multiple neurological complications in a case of anterior pituitary insufficiency]. / Manifestations neurologiques multiples associées à une insuffisance anté-hypophysaire.

Neurological manifestations of anterior pituitary deficiency are well known but their association remains rare. We report a woman who developed, insidiously over ten Years, a complex neurological disorder associating cognitive impairment, psychiatric disorder, cerebellar ataxia, demyelinating neuropathy, and myopathy with pseudomyotonia. After 18 Months of hormone substitution treatment, the patient fully recovered.

[Pyomyositis in an immunocompetent adult: unusual complication of rhabdomyolysis]. / Pyomyosite chez une patiente non immunodéprimée: complication inhabituelle d'une rhabdomyolyse.

INTRODUCTION: Non-tropical pyomyositis is a commonly reported infection in immunodeficient patients' muscle but is rare without immunodeficiency. CASE DESCRIPTION: We report the case of a 40-year-old woman admitted in the physical medicine and rehabilitation department for a motor and sensory loss of the lower limb; this disorder appeared after rhabdomyolysis due to prolonged lying position (suicide attempt). The initial diagnosis of sciatic nerve compression was not consistent with motor loss of adductor muscles. Clinical examination revealed soft tissue swelling in the proximal part of her lower limb. CT scan displayed pyomyositis of the thigh (hip adductors and gluteus medius), which was successfully treated by surgical incision and drainage in combination with antibiotherapy. CONCLUSION: Non-tropical pyomyositis is rarely described without immunodeficiency but this diagnosis should be borne in mind when previous muscle trauma is associated to leukocytosis. Computed tomography and MRI are the tests of choice to confirm the diagnosis of pyomyositis and to differentiate it from other entities.