Involvement of peripheral and central nervous systems in a valosin-containing protein mutation.

Background: Inclusion-body myopathy with Paget's disease of the bone and frontotemporal dementia (IBMPFD) is a rare, late-onset autosomal disorder arising from missense mutations in a gene coding for valosin-containing protein.

Case Report: We report the case of a man carrying the previously described p.Arg159His mutation, who had an unusual axonal sensorimotor neuropathy as the first clinical manifestation of IBMPFD, and for whom diagnosis only became clear 8 years later when the patient developed frontotemporal dementia.

Acute-onset chronic inflammatory demyelinating polyneuropathy with cranial nerve involvement, dysautonomia, respiratory failure, and autoantibodies.

We examined a 27-year-old woman who developed rapidly progressive quadriplegia and acute respiratory failure that required mechanical ventilation in the intensive care unit. It was unclear whether this was a presentation of Guillain-Barré syndrome (GBS) or acute-onset chronic inflammatory demyelinating polyradiculoneuropathy (A-CIDP). Remarkable features included multiple cranial nerve involvement, respiratory failure, dysautonomia, and skin manifestations.

[Posterior cortical atrophy: anatomo-clinical variant of Alzheimer's disease].

The authors report the case of a 66-year-old woman who developed progressive occipital dysfunction and lately a dementing illness. Brain CT revealed posterior cerebral atrophy. Post-mortem examination showed the characteristic features of Alzheimer's disease, mainly in the posterior areas, relatively sparing the amygdala and Ammon's horn.

[Crossed aphasia in a right-handed patient].

A case of crossed aphasia in a right-handed patient provided evidence that cerebral dominance for speech may be located in the right hemisphere. Intravenous injection of amytal in the left carotid artery did not worsen the language disturbances. Comparison of this case with those reported shows that there is not a constant model with only one physiopathological mechanism for all cases of crossed aphasia in right-handed patients.