MR imaging findings have been reported in only a few cases of severe arterial hypertension. We report two cases of severe paroxysmal arterial hypertension associated with unusual brain stem hyperintensity. The lesions improved dramatically after stabilization of blood pressure, suggesting that edema could be the main cause of the MR imaging-observed hyperintensity.

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Citations (102)

[Tubular aggregate congenital myopathy associated with neuromuscular block].

PubMed (2001)

Hélène Zephir Tanya Stojkovic C. A. Maurage Jean‐François Hurtevent Patrick Vermersch

Creatine kinase

Muscle weakness

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Citations (10)

European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A)

Journal of Neurology (2019)

Andrea Barp Pascal Laforêt Luca Bello Giorgio Tasca John Vissing

Limb-girdle muscular dystrophy

Facioscapulohumeral muscular dystrophy

Neuroradiology

Muscle weakness

10.1007/s00415-019-09539-y

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Citations (52)

Bethlem myopathy: long-term follow-up identifies COL6 mutations predicting severe clinical evolution

Journal of Neurology Neurosurgery & Psychiatry (2014)

Nicolas Deconinck Pascale Richard Valérie Allamand Anthony Béhin Pascal Laforêt

Objective

Mutations in one of the 3 genes encoding collagen VI (COLVI) are responsible for a group of heterogeneous phenotypes of which Bethlem myopathy (BM) represents the milder end of the spectrum. Genotype-phenotype correlations and long-term follow-up description in BM remain scarce.

Methods

We retrospectively evaluated the long-term clinical evolution, and genotype-phenotype correlations in 35 genetically identified BM patients (23 index cases).

Results

Nineteen patients showed a typical clinical picture with contractures, proximal weakness and slow disease progression while 11 presented a more severe evolution. Five patients showed an atypical presentation, namely a limb girdle muscle weakness in 2 and a congenital myopathy pattern with either no contractures, or only limited to ankles, in 3 of them. Pathogenic COL6A1-3 mutations were mostly missense or in frame exon-skipping resulting in substitutions or deletions. Twenty one different mutations were identified including 12novel ones. The mode of inheritance was, autosomal dominant in 83% of the index patients (including 17% (N=4) with a de novo mutation), recessive in 13%, and undetermined in one patient. Skipping of exon 14 of COL6A1 was found in 35% of index cases and was mostly associated with a severe clinical evolution. Missense mutations were detected in 39% of index cases and associated with milder forms of the disease.

Conclusions

Long-term follow-up identified important phenotypic variability in this cohort of 35 BM patients. However, worsening of the functional disability appeared typically after the age of 40 in 47% of our patients, and was frequently associated with COL6A1 exon 14 skipping.

Congenital myopathy

Muscle contracture

10.1136/jnnp-2013-307245

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Citations (37)

[Hypertrophy of the biceps surae after post-radiation lumbar radiculopathy].

PubMed (2003)

Tanya Stojkovic de Sèze Jean‐François Hurtevent P. Lestavel Patrick Vermersch

Cauda equina

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Citations (8)

SORD NEUROPATHY: GENE IDENTIFICATION AND PROPOSAL FOR A FOLLOW UP MULTI-CENTRE NATURAL HISTORY STUDY (2706)

Neurology (2021)

Andrea Cortese Maike F. Dohrn Yi Zhu Adriana Rebelo Jingyu Wang

Sunday, April 18April 13, 2021Free AccessSORD NEUROPATHY: GENE IDENTIFICATION AND PROPOSAL FOR A FOLLOW UP MULTI-CENTRE NATURAL HISTORY STUDY (2706)Andrea Cortese, Maike Dohrn, Yi Zhu, Adriana Rebelo, Jingyu Wang, Matt C. Danzi, Shawna M.E. Feely, … Show All … , Tanya Stojkovic, Michaela Auer-Grumbach, Sherifa A. Hamed, Ruxu Zhang, Fiore Manganelli, Franco Taroni, Davide Pareyson, Henry Houlden, David N. Herrmann, Mary M. Reilly, and Michael Shy Asian Oceanic Inherited Neuropathy Consortium Inherited Neuropathy Consortium, and Stephan Zuchner Show FewerAuthors Info & AffiliationsApril 13, 2021 issue96 (15_supplement)https://doi.org/10.1212/WNL.96.15_supplement.2706 Letters to the Editor

Identification

10.1212/wnl.96.15_supplement.2706

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The prevalence of Sjögren syndrome in patients with primary progressive multiple sclerosis

Neurology (2001)

de Sèze David Devos Giovanni Castelnovo Pierre Labauge Sylvain Dubucquoi

To assess the prevalence of Sjögren syndrome (SS) in patients with primary progressive MS (PPMS).SS may be considered in the differential diagnosis of MS. Age at onset and clinical presentation are similar in SS and PPMS. However, occurrence of SS in definite cases of PPMS has been recently reported.Proposed clinical and laboratory diagnostic criteria for SS were systematically assessed in 60 consecutive patients with PPMS. The authors questioned all patients about xerophthalmia and xerostomia, biopsied minor salivary glands, and performed a Schirmer test, a salivary gland scintigraphy, and anti-Ro (SSa) and anti-La (SSb) serologies.Ten patients (16.6%) met four or more criteria for SS. This prevalence is higher than in the general population (1 to 5%) and implies that SS can mimic PPMS.The authors propose that SS should be screened for systematically in patients with PPMS.

Xerophthalmia

Presentation (obstetrics)

Sialography

Schirmer test

10.1212/wnl.57.8.1359

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Citations (98)

CONGENITAL MUSCULAR DYSTROPHIES

Neuromuscular Disorders (2020)

R. Villar Quiles S. Donkevoort Alix de Becdelièvre Valérie Allamand V. Jobic

Muscle contracture

Collagen VI