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Σάββατο, 25 Μαΐου 2019

Neurological Sciences

Correction to: A review of electrophysiological studies of lower motor neuron involvement in amyotrophic lateral sclerosis

The published version of this article unfortunately contained a mistake. The sequence of authorship and the corresponding author is incorrect. The correct sequence and corresponding author is presented here.



A case of foreign accent syndrome in a patient affected by a complex functional movement disorder


Accuracy of MDS-UPDRS section IV for detecting motor fluctuations in Parkinson's disease

Abstract

Background

In a precedent paper, we validated part IV of the Unified Parkinson's Disease Rating Scale (UPDRS) for detecting motor fluctuations in Parkinson's Disease (PD) patients using a 12-h Waking-Day Motor Assessment (WDMA) as gold standard, showing a high sensitivity (> 80%) and a lower specificity (< 45%). The aim of this study was to validate the Movement Disorder Society-UPDRS (MDS-UPDRS) part IV, especially items 4.3 and 4.5, using the same methodology.

Methods

PD patients attending the Movement Disorders Clinic at the University Hospital in Catania were consecutively enrolled in the study. A diurnal WDMA was performed to detect motor fluctuations. At each time interval, the motor impairment was evaluated using the motor section of the MDS-UPDRS. Presence or absence of motor fluctuations and the type of motor fluctuation were assessed by four blinded expert raters in movement disorders, by evaluating the graphical representations of the WDMA. We evaluated sensitivity and specificity together with 95% Confidence Interval (CI) of items 4.3 and 4.5, using WDMA as gold standard.

Results

We estimated for item 4.3 of the MDS-UPDRS a sensitivity of 74.3% (95% CI 56.7–87.5) and a specificity of 70.6% (95% CI 44–89.7), while for item 4.5, a sensitivity of 67.9% (95% CI 47.6–84.1) and a specificity of 66.7% (95% CI 44.7–84.4).

Conclusions

The present showed a higher specificity level for MDS-UPDRS with respect to the UPDRS, while a slightly lower sensitivity mainly for predictable OFF.



A rare cause of Horner's syndrome: cervicothoracic spinal root cysts

Abstract

Objection

We herein report cervicothoracic spinal root cysts as a rare cause of Horner's syndrome.

Case report

A 62-year-old woman was admitted to our neuro-ophthalmology clinic complaining of drooping of her right upper eyelid. The history, physical examination, and laboratory tests were normal. The extraocular movements were full. The right eyelid was ptotic and the right pupil was smaller than the left. Right Horner's syndrome was diagnosed by the neuro-ophthalmologic examination and pharmacological tests. Cervical magnetic resonance imaging showed multiple spinal nerve root cysts between C7 and T1 segments of the spinal cord.

Conclusion

This report showed for the first time that cervicothoracic spinal root cysts could cause Horner's syndrome and should be kept in mind in performing neuroimaging studies.



Methotrexate-induced toxic leukoencephalopathy: an uncommon stroke mimic


A novel mutation in the CSF1R gene causes hereditary diffuse leukoencephalopathy with axonal spheroids


Late-onset and fast progressive neuropathy and cardiomyopathy in Val32Ala transthyretin gene mutation

Abstract

More than 100 mutations of the transthyretin gene have been reported in autosomal dominant familial amyloid polyneuropathy. This rare disease causes severe motor and sensory disability, dysautonomia, and in some patients also cardiomyopathy. The diagnosis can be challenging mainly in sporadic adult patients showing clinical, laboratory, and neurophysiological findings overlapping other forms of chronic neuropathy. We describe the clinical features and course of a patient harboring the rare p.V32A (c.155T>C) variant that was previously described in only two patients and whose pathogenicity was unclear.



Malignant syndrome triggered by influenza A virus infection in a patient with Parkinson's disease with improvement after intravenous peramivir treatment


A novel SLC20A2 gene mutation causing primary familial brain calcification in an Ukrainian patient


Attenuation of ALS progression during pregnancy—lessons to be learned or just a coincidence?

Abstract

ALS is the most frequent motor neuron disorder in adults with suggested complex relationship regarding gender. Studies investigating ALS and hormones have provided varying results. ALS onset during pregnancy is uncommon and pregnancy after the ALS symptom onset is even rarer. We present three patients with the onset of ALS symptoms before or during pregnancy and propose a putative disease modifying mechanism leading to attenuation of disease progression that we observed during the pregnancies.





ALEXANDROS SFAKIANAKIS ANAPAFSEOS 5 AGIOS NIKOLAOS CRETE 72100 GREECE +306932607174 +302841026182

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