Axonal neuropathy
Recessive REEP1 mutation is associated with congenital axonal neuropathy and diaphragmatic palsy
... RESULTS Case report. The now 5-year-old boy was born at term after a normal pregnancy to healthy first-cousin parents from Lebanon. Two older brothers are healthy. At birth, the patient presented with an equinovarus foot ...
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Chronic idiopathic axonal neuropathy and pain, treated with the endogenous lipid mediator palmitoylethanolamide: a case collection
... A 66-year-old Caucasian male (born in 1947) suffered from chronic idiopathic axonal polyneuropathy, and showed a mean pain score of 8 on the NRS. The diagnosis was sup- ported by EMG analysis in 2011, showing ...
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Advancing the pathologic phenotype of giant axonal neuropathy: early involvement of the ocular lens
... Giant axonal neuropathy (GAN; ORPHA: 643; OMIM# 256850) is a rare, hereditary, pediatric neurodegenerative disorder associated with intracellular accumulations of intermediate filaments ...
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Complete callosal agenesis, pontocerebellar hypoplasia, and axonal neuropathy due to AMPD2 loss
... PCH9, the mutation in our family is within the conserved AMP deaminase domain (figure 3). It is currently unclear why our patients display a severe phenotype with both central and peripheral neurologic manifestations. ...
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Autosomal dominant optic atrophy and cataract “plus” phenotype including axonal neuropathy
... an axonal neuropathy may be a major clinical feature of ...well-documented axonal neuropathy, we observed 3 clinical presentations: asymptomatic, sensory-predominant, and motor and ...
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Overexpression of mutant HSP27 causes axonal neuropathy in mice
... exhibited axonal neuropathy as ...by axonal neuropathy, such as CMT2. These axonal defects increase fatty infiltration in the anterior and posterior compartments of the calf, which ...
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GIANT AXONAL NEUROPATHY
... Although the pathological findings in this child are unique, many of the clinical fea- tures are similar to those of other reported child patients with chronic polyneuropathy; namely, ea[r] ...
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Sonic Hedgehog repression underlies gigaxonin mutation–induced motor deficits in giant axonal neuropathy
... The concept of developmental defects in neurodegenerative diseases is well established for early-onset conditions, and is now emerging for late-onset pathologies where symptoms only become detectable in adulthood. ...
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Giant axonal neuropathy–associated gigaxonin mutations impair intermediate filament protein degradation
... large axonal aggregates of IFs are the pathological hallmark of ...altered axonal transport and progressive neuronal dysfunc- tion, accounting for the hallmark features of the disease, particularly the ...
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Comparison of electrophysiological findings in axonal and demyelinating Guillain-Barre syndrome.
... Methods: We retrospectively evaluated the medical records and electrodiagnostic study (EDS) of 121 GBS patients who were managed in our hospital during 11 years. After regarding the exclusion criteria, patients ...
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An Overview on Guillain Barre Syndrome
... motor axonal neuropathy, 43 ...to axonal damage (fig ...the neuropathy is ...sensory axonal neuropathy supports antibody mediated damage to the axon, as does a rabbit model of ...
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Consensus Paper: Radiological Biomarkers of Cerebellar Diseases
... 125] Cerebellar ataxia with sensorimotor axonal neuropathy AT ATM Ataxia Telangectasia mutated 2–3 Conjuctival telangectasias, dystonia, chorea, susceptibility to infections and cancer E[r] ...
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Small volume plasma exchange for Guillain-Barré syndrome in resource poor settings: a safety and feasibility study
... motor axonal neuropathy; CAUTI: Catheter-associated urinary tract infection; CDC: Communicable Disease Control; CLABSI: Central line- associated blood stream infection; CRF: Case record form; CVC: Central ...
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EPIDEMIOLOGICAL, CLINICAL AND ELECTRODIAGNOSTIC FINDINGS IN CHILDHOOD GUILLAIN-BARRE SYNDROME
... motor-sensory axonal neuropathy ...motor-sensory axonal neuropathy.9 Although most of our knowledge of axonal type GBS arises from Chinese ...
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CHCHD10 variant p.(Gly66Val) causes axonal Charcot-Marie-Tooth disease
... distal axonal neuropathy with motor predominance, progressing to involve sensory ...sensorimotor axonal neu- ropathy with no loss of anterior horn ...
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Severe Guillain Barré syndrome associated with chronic active hepatitis C and mixed cryoglobulinemia: a case report
... paralysis and decreased tendon reflexes or areflexia, often with sensory deficits and cranial nerve involve- ment. The acute progression of limb weakness, 1–2 weeks after immune stimulation often triggered by an ...
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Changes in lymphocyte subsets in patients with Guillain-Barré syndrome treated with immunoglobulin
... Herein, we investigated lymphocyte subsets in patients with two major subtypes of GBS (acute inflammatory demyelinating polyneuropathy, AIDP, and acute motor axonal neuropathy, AMAN) bef[r] ...
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Adult-onset autosomal dominant spastic paraplegia linked to a GTPase-effector domain mutation of dynamin 2
... eral neuropathy. DNM2-associated autosomal dominant CMT2 neuropathy is characterized by progressive distal muscle weakness and atrophy, predominantly in the lower extremities, decreased or absent tendon ...
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Clinical and electrophysiological features of post-traumatic Guillain-Barré syndrome
... motor axonal neuropathy (AMAN), or acute motor sensory axonal neuropathy ...an axonal rather than demyelinating form of neuropathy, which predicted the severe clinical courses ...
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Anti ganglioside Antibody profile in GBS - Clinical, Immunological and Neurophysiological significance.
... and axonal forms consists of acute motor axonal neuropathy and acute motor and sensory axonal ...sensory neuropathy/ neuronopathy, pandysautonomia, and overlap ...
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