Journal of neurology, neurosurgery, and psychiatry
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J. Neurol. Neurosurg. Psychiatr. · Dec 2015
Bethlem myopathy: long-term follow-up identifies COL6 mutations predicting severe clinical evolution.
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. ⋯ 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.
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J. Neurol. Neurosurg. Psychiatr. · Dec 2015
Diagnosis of dementias by high-field 1H MRS of cerebrospinal fluid.
To test whether the information obtained from cerebrospinal fluid (CSF) and analysed with high-field proton ((1)H) MR spectroscopy (MRS) would help the diagnosis of most common forms of dementia. ⋯ The results indicate that the composition of CSF contains enough information of the neurological state of a given patient with a given dementia to be diagnosed with extremely high accuracy. This approach might provide potentially a very powerful diagnostic tool to help the diagnostic process of dementias.
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J. Neurol. Neurosurg. Psychiatr. · Dec 2015
Antifibroblast growth factor receptor 3 antibodies identify a subgroup of patients with sensory neuropathy.
Immunological mechanisms are suspected in sensory neuropathy (SN) occurring with systemic autoimmune diseases and in some idiopathic cases, but so far there are no antibodies (Abs) identifying these neuropathies. ⋯ A anti-FGFR3 Abs identify a subgroup of patients with SN in whom an underlying autoimmune disorder affecting sensory neurons in the dorsal root and trigeminal nerve ganglia is suspected.
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J. Neurol. Neurosurg. Psychiatr. · Dec 2015
Intracranial venous collaterals in cerebral venous thrombosis: clinical and imaging impact.
Few studies have examined collateral formation in patients with cerebral venous thrombosis (CVT). The aim of this study was to analyse the impact of baseline intracranial venous collaterals on the clinical outcome and imaging features of patients with acute CVT. ⋯ Intracranial venous collaterals are frequently found in patients with CVT during the acute phase. However, they do not have an independent effect on the type of brain damage, clinical manifestations or prognosis.