Charcot-Marie-Tooth disease type 4C, an autosomal recessive genetic neuropathy, is caused by mutations in the SH3TC2 (SH3 domain and tetratricopeptide repeats 2) gene. Interestingly, although mutations in this gene have been observed in European gypsies, a population that originated in India, there are few publications describing Indian patients. We report our analysis of a 50-year-old woman of...

OBJECTIVE To quantify the FHL length difference obtained through a single approach and by a double combined approach. METHODS 16 fresh cadavers, a total of 32 feet, were used to measure the FHL graft length. With the cadaver positioned in ventral decubitus, a posteromedial incision in the ankle and a second incision in the plantar cavus were performed. RESULTS The average gain of tendon's l...

BACKGROUND Transient white matter lesions have been rarely reported in X-linked Charcot-Marie-Tooth disease type 1. CASE PRESENTATION We describe a 15-year-old boy who presented transient and recurrent weakness of the limbs for 5 days. His mother, his mother's mother and his mother's sister presented pes cavus. MRI and electrophysiology were performed in the proband. Gap junction protein beta...

Clinical, electrophysiological, and histopathological studies of some members of a family with dominantly inherited hypertrophic neuropathy are presented. Twenty-five members were studied. Seventeen were abnormal on clinical examination. Their ages varied from 2 1/2 to 78 years. Age at onset in 14 of the 17 varied between 2 1/2 and 56 years. Pes cavus and palpable nerve thickening were present ...

We performed CT to investigate how treatment may modify the basic skeletal pathology of congenital club foot. Two homogenous groups of patients treated by one of the authors (EI) or under his supervision were studied. The first included 32 patients with 47 club feet reviewed at a mean age of 25 years and treated by manipulation, application of toe-to-groin plaster casts and an extensive postero...

Progressive signs of ataxia in a eight year old girl with hypo-active knee and ankle jerks, prompted the analysis of the frataxin gene (FXN; 606829). The most common molecular abnormality--GAA trinucleotide repeat expansion in intron 1--was found with +300 GAA repeats (1490 bp) (normal individuals have 5 to 30 GAA repeats expansions, whereas affected individuals have from 70 to more than 1000 G...

Charcot-Marie-Tooth hereditary motor and sensory neuropathy refers to a group of disorders characterized by a chronic motor and sensory polyneuropathy. Typical cases have distal muscle weakness and peroneal atrophy often associated with mild to moderate sensory loss, depressed tendon reflexes, and pes cavus. Hereditary neuropathies are categorized by mode of inheritance and chromosomal locus. T...

To present a case of cauda equina syndrome (CES) caused by chronic inflammatory demyelinating polyneuropathy (CIDP) which seemed clinically similar to Charcot-Marie-Tooth disease type1 (CMT1). CIDP is an immune-mediated polyneuropathy, either progressive or relapsing-remitting. It is a non-hereditary disorder characterized by symmetrical motor and sensory deficits. Rarely, spinal nerve roots ca...

SECTION 1 A 47-year-old man presented with a 5-year history of slowly progressive gait disorder with clumsiness and unsteadiness during walking, as well as stiffness and cramping pain in his legs. He also had erectile dysfunction and nocturia. He denied sensory deficits and other focal neurologic or systemic symptoms. He had a medical history of hypogonadism, diagnosed 1 year before the onset o...

EXTRACELLULAR GLUTAMATE, GLUTAMINE, AND GABA IN THE HIPPOCAMPUS AND CORTEX OF REFRACTORY EPILEPSY PATIENTS. Jonathan C. Romanyshyn and Idil Cavus MD, PhD. Departments of Psychiatry and Neurosurgery, Yale University School of Medicine, New Haven, CT. Antiepileptic drug (AED) resistance affects one third of patients with epilepsy and is associated with significant disability. Brain microdialysis ...