Search results for "Marie"

PDXK mutations cause polyneuropathy responsive to pyridoxal 5′‐phosphate supplementation

2019

OBJECTIVE: To identify disease-causing variants in autosomal recessive axonal polyneuropathy with optic atrophy and provide targeted replacement therapy. METHODS: We performed genome-wide sequencing, homozygosity mapping, and segregation analysis for novel disease-causing gene discovery. We used circular dichroism to show secondary structure changes and isothermal titration calorimetry to investigate the impact of variants on adenosine triphosphate (ATP) binding. Pathogenicity was further supported by enzymatic assays and mass spectroscopy on recombinant protein, patient-derived fibroblasts, plasma, and erythrocytes. Response to supplementation was measured with clinical validated rating sc…

Lectura, escritura de mujeres y transmisión familiar en Lengua madre, de María Teresa Andruetto. Aprender de (pos)memoria

2019

Fisiopatología celular del déficit de GDAP1, relacionado con la enfermedad de Charcot-Marie-Tooth

2012

La enfermedad de Charcot-Marie-Tooth es uno de los trastornos neurológicos hereditarios más comunes que afecta aproximadamente a uno de casa 2.500 – 5.000 habitantes. La enfermedad CMT se clasifica en neuropatías desmielinizantes (CMT1) y neuropatías axonales (CMT2). Para ambas entidades se han descrito diversos patrones de herencia. Actualmente se conocen más de 40 genes implicados en la enfermedad siendo GDAP1 uno de los más variables en cuanto al fenotipo. Mutaciones en el gen GDAP1 se han relacionado con la enfermedad de tipo axonal y desmielinizante, además de heredarse de manera autosómica dominante o recesiva en función del tipo de mutación. GDAP1 es una proteína pequeña que se ancla…

Phenotype and natural history of inherited neuropathies caused byHSJ1c.352+1G>A mutation

2015

Mutations in the HSJ1 ( Heat-Shock Protein J1 ) gene, also called DNAJB2 (DnaJ (Hsp40) homologue, subfamily B, member 2), have been recently described as a cause of hereditary neuropathies. The HSJ1 c.352+1G>A mutation in homozygote state has been reported as the causative mutation in a single family with autosomal recessive distal hereditary motor neuropathy (dHMN).1 Since then, two other families with different HSJ1 mutations have been described: one with a dHMN phenotype and the other with a Charcot-Marie-Tooth disease type 2 (CMT2) phenotype.2 We identified the HSJ1 c.352+1G>A mutation in 10 patients who underwent long-lasting follow-up. We describe their phenotype and clinical evolutio…

Mutations in theMORC2gene cause axonal Charcot–Marie–Tooth disease

2015

Charcot-Marie-Tooth disease (CMT) is a complex disorder with wide genetic heterogeneity. Here we present a new axonal Charcot-Marie-Tooth disease form, associated with the gene microrchidia family CW-type zinc finger 2 (MORC2). Whole-exome sequencing in a family with autosomal dominant segregation identified the novel MORC2 p.R190W change in four patients. Further mutational screening in our axonal Charcot-Marie-Tooth disease clinical series detected two additional sporadic cases, one patient who also carried the same MORC2 p.R190W mutation and another patient that harboured a MORC2 p.S25L mutation. Genetic and in silico studies strongly supported the pathogenicity of these sequence variant…

Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene.

2018

Abstract PHARC (Polyneuropathy, Hearing loss, Ataxia, Retinitis pigmentosa and Cataracts) (MIM# 612674 ) is an autosomal recessive neurodegenerative disease caused by mutations in the ABHD12 gene. We evaluated two Spanish siblings affected with pes cavus, sensorimotor neuropathy, hearing loss, retinitis pigmentosa and juvenile cataracts in whom the genetic test of ABHD12 revealed a novel homozygous frameshift mutation, c.211_223del (p.Arg71Tyrfs*26). The earliest clinical manifestation in these patients was a demyelinating neuropathy manifested with a Charcot-Marie-Tooth phenotype over three decades. Progressive hearing loss, cataracts and retinitis pigmentosa appeared after the age of 30. …

The EGR2 gene is involved in axonal Charcot-Marie-Tooth disease

2015

Background and purpose A three-generation family affected by axonal Charcot−Marie−Tooth disease (CMT) was investigated with the aim of discovering genetic defects and to further characterize the phenotype. Methods The clinical, nerve conduction studies and muscle magnetic resonance images of the patients were reviewed. A whole exome sequencing was performed and the changes were investigated by genetic studies, in silico analysis and luciferase reporter assays. Results A novel c.1226G>A change (p.R409Q) in the EGR2 gene was identified. Patients presented with a typical, late-onset axonal CMT phenotype with variable severity that was confirmed in the ancillary tests. The in silico studies sho…

Case study: effect of handrim diameter on performance in a paralympic wheelchair athlete.

2009

This study, with a top T-52 class athlete, determines the relationship between stroke frequency (SF) and push time (PT) and wheelchair velocity (Wv) using different handrim diameters (HD) and the effect of different HDs on the athlete’s heart rate (HR) and blood lactate (LACT) at competition speeds. Wv shows a linear-direct relationship with SF but a linear-inverse relationship with PT (p < .001 in both cases). Using bigger handrims (0.37 m instead of 0.36 m), SF increases 6%, while PT decreases 27% (at 24 Km·h–1). HR (p < .0001) increases with Wv and is also affected by HD with differences between the 0.34 m—0.36 m handrim group (lower values) and the 0.37 m handrim (higher values). …

Vestibular impairment in Charcot-Marie-Tooth disease type 4C.

2014

Charcot-Marie-Tooth disease type 4C (CMT4C) is a hereditary neuropathy with prominent unsteadiness. The objective of the current study is to determine whether the imbalance in CMT4C is caused only by reduced proprioceptive input or if vestibular nerve involvement is an additional factor. We selected 10 CMT4C patients and 10 age-matched and sex-matched controls. We performed a comprehensive evaluation of the vestibular system, including video Head Impulse Test, bithermal caloric test, galvanic stimulation test and skull vibration-induced nystagmus test. None of the patients experienced dizziness, spontaneous or gaze-evoked nystagmus, but all had significant vestibular impairment when tested …

Influence of Training Models at 3,900-m Altitude on the Physiological Response and Performance of a Professional Wheelchair Athlete: A Case Study.

2019

Sanz-Quinto, S, Lopez-Grueso, R, Brizuela, G, Flatt, AA, and Moya-Ramon, M. Influence of training models at 3,900-m altitude on the physiological response and performance of a professional wheelchair athlete: A case study. J Strength Cond Res 33(6): 1715-1723, 2019-This case study compared the effects of two training camps using flexible planning (FP) vs. inflexible planning (IP) at 3,860-m altitude on physiological and performance responses of an elite marathon wheelchair athlete with Charcot-Marie-Tooth disease (CMT). During IP, the athlete completed preplanned training sessions. During FP, training was adjusted based on vagally mediated heart rate variability (HRV) with specific sessions…