Diagnosing concomitant transverse myelitis (TM) and Guillain-Barré syndrome (GBS) can be challenging. We report a case of an elderly patient presenting with acute sensory and motor disturbances in the four limbs, associated with urinary retention, ophthalmoparesis, facial weakness, and dysarthria. Electrodiagnostic studies were consistent with acute motor sensory axonal neuropathy (AMSAN), and ...

OBJECTIVE We describe the phenotype consistent with axonal Charcot-Marie-Tooth disease type 2 (CMT2) in 4 families with a c.197G>T (p.(Gly66Val)) variant in CHCHD10. METHODS We sequenced the CHCHD10 gene in a cohort of 107 families with CMT2 of unknown etiology. The patients were characterized by clinical examination and electroneuromyography. Muscle MRI and biopsy of the muscle or nerve were...

The pharyngeal cervical brachial (PCB) variant of Guillain-Barre-syndrome (GBS) is defined by rapidly progressive oropharyngeal and cervicobrachial weakness associated with areflexia in upper limbs. On nerve conduction study PCB represents a localized subtype GBS characterized axonal rather than demyelinating neuropathy. often misdiagnosed as brainstem stroke, myasthenia gravis or botulism. Her...

Antibodies targeting major gangliosides that are broadly distributed in the nervous system are sometimes associated with clinical symptoms that imply selective nerve damage. For example, anti-GD1a antibodies are associated with acute motor axonal neuropathy (AMAN), a form of Guillain-Barré syndrome that selectively affects motor nerves, despite reports that GD1a is present in human axons and my...

Objective Acute motor axonal neuropathy (AMAN), characterized with decreased compound muscle action potentials (CMAP) and absence of demyelinating findings in electrophysiological studies, is a subtype of Guillain-Barre Syndrome (GBS). A 4 yr-old male patient presented with ascending weakness, dysarthria and dysphagia to İstanbul Dr. Lütfi Kırdar Kartal Training and Research Hospital Neurology ...

BACKGROUND Cerebrotendinous xanthomatosis (CTX) is a rare lipid-storage disease. Neuromuscular abnormality and autonomic system (ANS) dysfuction in CTX are rarely examined in large-scale studies in the literature. We studied the peripheral nervous system, myopathology, and autonomic system of four CTX patients and performed a literature review of the reported CTX patients with peripheral neurop...

Comprehensive electrophysiological studies were performed on 13 patients with arsenic neuropathy. The most prominent finding was a marked abnormality in sensory nerve conduction in the presence of moderate abnormalities in motor nerve conduction. The motor nerve conduction studies and needle EMG were typical of those seen in axonal degeneration which was confirmed by sural nerve biopsy.

BACKGROUND The X-linked dominant Charcot-Marie-Tooth neuropathy (CMTX) is a hereditary motor and sensory neuropathy linked to a variety of mutations in the connexin32 (Cx32) gene. Clinical and genetic features of CMTX have not previously been reported in Taiwanese. METHODS Clinical evaluations and electrophysiological studies were carried out on 25 family members of a Taiwanese family group. ...

Recent studies on axonal transport in experimental neuropathy are reviewed and the following combinations of pathological changes and underlying axonal transport abnormalities are proposed for a classification of polyneuropathies. Alterations of the anterograde transport of slow component a(SCa) leads to changes of the dimensions of the axon calibre without the occurrence either of overt neurop...

A case of distal muscle wasting associated with hypoglycaemia is described. Motor and sensory conduction studies are reported that provide little evidence of a hypoglycaemic peripheral neuropathy. Damage to anterior horn cells or motor roots appears to be a more likely explanation for the amyotrophy. Recovery occurred clinically with evidence of reinnervation by axonal collateral sprouting.