Mutations in the gene encoding the mitochondrial carrier protein SLC25A46 are known to cause optic atrophy associated with peripheral neuropathy and congenital pontocerebellar hypoplasia. We found novel biallelic SLC25A46 mutations (p.H137R, p.
View Article and Find Full Text PDFIntroduction: Distal sensory neuropathy is the most common form of diabetic neuropathy. We developed a novel antidromic technique for assessment of distal nerve function for early diagnosis of diabetic neuropathy.
Methods: Diabetic and control groups underwent standard and more distal sensory nerve conduction studies (NCS); sensory nerve action potentials (SNAPs) of the proper digital branches of the medial plantar nerve were recorded with our method after stimulation at the sole and recording from digits I and II.
We report the case of a 54-year-old patient affected by ankylosing spondylitis who developed multifocal motor neuropathy with conduction blocks after 8 months of infliximab treatment. TNF alpha antagonist therapy has been associated with the development of both central nervous system and peripheral nervous system disorders, mainly of the demyelinating type. To our knowledge, this seems to be the second reported case of infliximab-related typical multifocal motor neuropathy with conduction blocks in which no other underlying causes of neuropathy were present.
View Article and Find Full Text PDFThe aim of this study was to validate the Italian version of the Neuropathic Pain Symptom Inventory (NPSI) in patients with neuropathic pain due to peripheral nerve diseases, and also to evaluate the validity of a new NPSI score: a frequency weighted NPSI score (NPSI-FW). First, the original version of the NPSI was translated into Italian. Then the validity and reliability of the Italian NPSI (I-NPSI) were tested in 392 Italian patients consecutively referred to 16 Italian outpatient services for peripheral nerve diseases, by correlating the I-NPSI scores with other pain scales.
View Article and Find Full Text PDFAutosomal dominant Charcot-Marie-Tooth disease type 1B (CMT1B) is caused by heterozygous mutations in the extracellular domain of P0. Here, we investigated clinically, electrophysiologically and pathologically a pedigree with a novel mutation in the intracellular domain of P0 (P0ic). The mutational analysis included denaturing high performance liquid chromatography (DHPLC) and nucleotide sequencing.
View Article and Find Full Text PDFWe report clinical and neurophysiological findings in two patients with palatal tremor (PT). In both patients a prompt and persistent suppression of palatal movements and clicking sounds is caused by slight passive or active mouth opening. One patient has a typical essential palatal tremor (EPT) according to current classification criteria.
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