Mutational analysis of glycyl-tRNA synthetase (GARS) gene in Hirayama disease.

Sporadic juvenile muscular atrophy of the distal upper extremity or Hirayama's disease (HD) and autosomal dominant motor distal neuronopathy/axonopathy (CMT2D/dSMA-V), produced by glycyl-tRNA synthetase (GARS) gene mutations, share some clinical features including: young age of onset, predilection for the distal upper extremity, asymmetry, sparing of proximal muscles and unusual cold sensitivity. However, incomplete penetrance of GARS gene mutations may account for apparently non-familial cases. In order to inquire whether GARS gene mutations are associated with HD we studied seven patients fulfilling the clinical and electrodiagnostic criteria for HD.

Acute neuropathy mimicking porphyria induced by aminolevulinic acid during photodynamic therapy.

An 82-year-old man developed severe, acute, predominantly motor polyneuropathy, signs of autonomic involvement, and skin changes following aminolevulinic acid (ALA) administration. The compound was used as a prodrug for photodynamic therapy of Barrett's esophagitis. Changes were observed in various parameters of the heme pathway.