77 research outputs found
Hereditary motor-sensory neuropathy (HMSN) type v of late onset
No full textWe describe a dominant disease affecting 18 members in three generations. Most patients were classified either as Charcot-Marie-Tooth or Strumpell-Lorraine diseases. The index patient was a 47 years old female who presented pes cavus, bilateral cramps at lower limbs, distal muscle atrophy and rapid progression. An EMG showed signs of neurogenic atrophy but deep tendon reflexes were increased. At 60 years, the patient had painful cramps and a muscle biopsy showed neurogenic denervation. SPECT showed hyporeaction in rolandic area. One sister, at 50 years had both distal atrophy, pes cavus and spastic paraparesis. EMG showed normal conduction velocities. All known linkage for Charcot-Marie-Tooth type la, Ib, Ic, and CMTX were negative. Also the disease did not map with CMT Ha, üb, nor with CMT FVa, FVb. Therefore this is a rare family whose gene location is still unknown
A velocity-thresholds power splitting optimization for hybrid electric vehicles
No full textThe various operating scenarios of hybrid electric vehicles (HEVs) require the design of suitable power splitting strategies for the hybrid drivetrain. A compromise between low complexity and high efficiency is always an issue for the power management implementation. In this paper the parallel HEV is assumed to operate under a power splitting strategy based on vehicle velocity and battery state of charge thresholds. The off-line minimization of a cost function related to the vehicle electrical and fuel consumptions determines the velocity-based quantization levels and the corresponding ratios of the power splitting between the actuators. The effectiveness of the proposed approach is verified through numerical simulations of the new European driving cycle and the worldwide harmonized light vehicle test procedure
A voltage-dependent calcium current in mouse Swiss 3T3 fibroblasts.
No full textPatch-clamp experiments in the whole-cell mode have been performed in Swiss 3T3 mouse fibroblasts. Depolarizations from negative holding potential (Vh less than -60 mV) gave rise to a rapidly activating, fully inactivating, inward current of few tenths of nA in physiological saline at 35 degrees C. The current persisted when external Na+ was replaced by impermeant TMA+ and disappeared in 0 Ca2+, 1 mM EGTA. The current was reversible blocked by Co2+ and it was slightly reduced when external Ca2+ was substituted by Ba2+. Finally its reversal potential changed with Nernstian slope with increasing external Ca2+ concentrations. It is concluded that these cells possess a voltage-dependent Ca2+ channel
NEURO(NO)PATIE MOTORIE DISTALI FAMILIARI
No full textLe neuro(no)patie motorie distali (dHMN),
anche conosciute come CMT (Charcot-Marie-Tooth) spinali
o SMA (Spinal Muscular Atrophy) distali, sono
malattie che si caratterizzano per eterogeneità clinica e
genetica. Harding nel 1993 ha fornito una classificazione
delle dHMN basata sull’età di insorgenza, sulla modalità
di trasmissione e sulla presenza di caratteristiche aggiuntive.
Sono state definite quattro varianti autosomiche
dominanti (dHMN-I, dHMN-II, dHMN-V, dHMN-VII) e
tre autosomiche recessive (dHMN-III, dHMN-IV, dHMNVI).
Più recentemente, con l’introduzione degli studi di
linkage sull’intero genoma, sono state indagate famiglie
con dHMN, e sono stati portati alla luce tre nuovi sottotipi
clinico-genetici di cui due autosomici dominanti
(dHMN con segni piramidali e SMA distale congenita) ed
uno recessivo (dHMN Jerash). Vengono presentati i loci
ed i geni attualmente noti che rendono conto delle diverse
varianti cliniche e che permettono di fornire diagnosi
differenziale
The Homozygous Ganglioside-Induced Differentiation-Associated Protein 1 Mutation c.373C>T Causes a Very Early-Onset Neuropathy: Case Report and Literature Review.
No full textMutations in the ganglioside-induced differentiation-associated protein 1 (GDAP1) gene may cause severe early-onset inherited neuropathies. Here, the authors report a clinical and neurophysiological follow-up of a Pakistani child with a very early-onset neuropathy carrying a novel homozygous mutation in the GDAP1gene. They discuss the relationship between the several forms of Charcot-Marie-Tooth disease presenting in the first months of life and focus on the literature of GDAP1-associated early-onset neuropathy. This case further expands on the clinical spectrum and the genetic heterogeneity of early-onset inherited neuropathy due to GDAP1 gene mutations
A locus for migraine without aura maps on chromosome 14q21.2-q22.3
No full textMigraine is a common and disabling neurological disease of unknown origin characterized by a remarkable clinical variability. It shows strong familial aggregation, suggesting that genetic factors are involved in its pathogenesis. Different approaches have been used to elucidate this hereditary component, but a unique transmission model and causative gene(s) have not yet been identified. We report clinical and molecular data from a large Italian pedigree in which migraine without aura (MO) segregates as an autosomal dominant trait. After exclusion of any association between MO and the known familial hemiplegic migraine and migraine with aura loci, we performed a genomewide linkage analysis using 482 polymorphic microsatellite markers. We obtained significant evidence of linkage between the MO phenotype and the marker D14S978 on 14q22.1 (maximum two-point LOD score of 3.70, at a recombination fraction of 0.01). Multipoint parametric analysis (maximum LOD score of 5.25 between markers D14S976 and D14S978) and haplotype construction showed strong evidence of linkage in a region of 10 cM flanked by markers D14S1027 and D14S980 on chromosome 14q21.2-q22.3. These results indicate the first evidence of a genetic locus associated with MO on chromosome 14
Multipoint linkage mapping of the Emery-Dreifuss muscular dystrophy gene.
No full textThe clinical features to establish the diagnosis of X-linked Emery-Dreifuss muscular dystrophy (EMD) were recently redefined at the European EMD workshop in Baarn 1991. These criteria were used to select families from the literature and two new families for linkage analysis with the DNA markers F9, DX52, DXS15, F8C and DXS115. Recombinations are observed with the DNA markers F9, DXS52 and DXS15. No recombinations were found with F8C and DXS115. Multipoint linkage analysis indicates with a maximum location score of 73.9 that the EMD locus maps very close to F8
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