Mutation in the novel nuclear-encoded mitochondrial protein CHCHD10 in a family with autosomal dominant mitochondrial myopathy.

Mitochondrial myopathies belong to a larger group of systemic diseases caused by morphological or biochemical abnormalities of mitochondria. Mitochondrial disorders can be caused by mutations in either the mitochondrial or nuclear genome. Only 5% of all mitochondrial disorders are autosomal dominant.

Cranial nerve palsies in renal osteodystrophy.

There is a wide differential diagnosis for patients presenting with multiple cranial nerve palsies, including infectious, inflammatory, malignant, genetic, toxic, and metabolic conditions. This report describes the clinical features, neuroimaging findings, and response to surgical treatment in a patient with bilateral deafness and recurrent episodes of bilateral facial nerve palsy that were caused by renal osteodystrophy. It is suggested that renal osteodystrophy be considered in the differential diagnosis of multiple cranial nerve palsies in the appropriate clinical setting.

Focal occipital seizures with cerebral polyopia.

Polyopia is the visual perception of multiple images of a single visual stimulus. Cerebral polyopia has previously been described as an ictal phenomenon associated with temporal lobe seizures. We report the case of a man with multiple cavernous angiomas and occipital lobe seizures manifesting as cerebral polyopia.

Ischemic stroke in the setting of tuberculous meningitis.

The clinical syndrome of tuberculous (TB) meningitis leading to ischemic strokes is rarely seen today in immunocompetent adults native to North America. This entity is also notoriously difficult to diagnose because the presenting symptoms are often nonspecific. The authors describe a case of a man with TB meningitis which progressed to recurrent ischemic cerebral infarcts.

Phenotypic features and genetic findings in sacsin-related autosomal recessive ataxia in Tunisia.

Background: Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a clinically homogenous disorder reported in Quebec caused by mutations in the SACS gene (chromosome 13q12). Recently, we identified a Tunisian kindred demonstrating linkage to the ARSACS locus.

Objective: To report clinical, neurophysiological, and nerve biopsy findings in patients with autosomal recessive cerebellar ataxia related to the SACS gene in Tunisia.