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1/179. Acute inflammatory neuropathy in charcot-marie-tooth disease.

    The authors report an association between acute inflammatory neuropathy and previously undiagnosed Charcot-Marie-Tooth 1A disease in a 15-year-old girl. sural nerve biopsy study showed hypertrophic neuropathy with endoneurial infiltrates of macrophages and lymphocytes. This association may be coincidental, but a particular susceptibility to damage of these peripheral nerves cannot be excluded. This report confirms the importance of pes cavus as a sign of long-standing sensorimotor neuropathy.
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ranking = 1
keywords = neuropathy
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2/179. charcot-marie-tooth disease type I diagnosed in a 5-year-old boy after vincristine neurotoxicity, resulting in maternal diagnosis.

    charcot-marie-tooth disease type 1, also known as hereditary motor sensory neuropathy type 1, is an uncommon autosomal dominant disease that causes destruction of peripheral nerves with a varied clinical course, but often leads to muscle weakness. If the peroneal muscle is involved, the patient may develop a characteristic slapping gait. The dose-limiting side effect of the chemotherapeutic agent vincristine is usually its neurotoxicity. We report the case of a 5-year-old patient with leukemia who developed an acute polyneuropathy after treatment with vincristine. charcot-marie-tooth disease type 1 was diagnosed in the patient and, subsequently, in his mother only after vincristine toxicity was observed.
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ranking = 0.28571428571429
keywords = neuropathy
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3/179. Laryngeal electromyographic findings in charcot-marie-tooth disease type II.

    charcot-marie-tooth disease is a hereditary motor and sensory neuropathy that exhibits progressive muscular atrophy in the limbs, beginning with the lower extremities. It is now understood to be a heterogeneous group of disorders that can be differentiated both clinically and genetically. In charcot-marie-tooth disease type II C, axonal neuropathy, diaphragm weakness, and vocal cord paralysis are described within kindreds. We used laryngeal electromyography to study a patient with this disorder. This technique has potential in the diagnosis of charcot-marie-tooth disease type II.
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ranking = 0.60447308977337
keywords = axonal neuropathy, neuropathy
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4/179. Restoring hand function in patients with severe polyneuropathy: the role of electromyography before tendon transfer surgery.

    electromyography (EMG) was evaluated as a supplement to clinical examination and biomechanical considerations to optimize forearm donor muscle selection before tendon transfers to 4 functionless hands in 3 patients with slowly progressive polyneuropathies. Two patients had unusually severe charcot-marie-tooth disease; the third patient had idiopathic mononeuropathy multiplex. Standard EMG parameters were used to devise an intuitive muscle grading system, including most importantly interference patterns and motor control, plus motor unit morphology and stability. Given our objective of restoring survivable function despite ongoing polyneuropathy, we found that EMG reveals prognostically important differences among partially denervated candidate muscles that cannot be detected by experienced clinical examiners. Opposition transfer was performed on one hand of each patient. After 39-, 39-, and 51-month follow-up durations, restored opposition was graded as good in these 3 hands. We conclude that EMG provides meaningful guidance in selecting optimal forearm muscles for tendon transfers to hands in the setting of slowly progressive polyneuropathies.
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ranking = 0.85714285714286
keywords = neuropathy
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5/179. Phenotypic variation of a new P0 mutation in genetically identical twins.

    We have identified a new point mutation in the myelin protein zero (P0) gene in two genetically identical twins with a demyelinating neuropathy. The G to A transition at nucleotide position 382 caused an aspartic acid to asparagine substitution in exon 3. Moreover, we found clear clinical differences which were most evident at an early age. These observations suggest that the expression of this P0 mutation may be susceptible to external, non-genetic influences that may act early in the course of the disease to alter the phenotype.
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ranking = 0.14285714285714
keywords = neuropathy
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6/179. Demyelinating X-linked charcot-marie-tooth disease: unusual electrophysiological findings.

    X-linked charcot-marie-tooth disease (CMT-X) is caused by mutations of connexin-32 (Cx-32), which encodes a gap-junction protein. Whether the neuropathy is primarily demyelinative or axonal remains to be established. We report findings of prominent demyelination in a 71-year-old woman with late-onset disease. Electrophysiological studies revealed a nonuniform slowing of motor conduction velocities and dispersion of compound action potentials indicative of a demyelinating process which was confirmed by nerve biopsy. Such electrophysiological features are unusual in hereditary neuropathies and are more commonly found with acquired chronic demyelinating neuropathies. A systematic search confirmed the molecular genomic diagnosis of CMT-X, illustrating the value of such tests in sporadic cases. Severity of clinical symptoms and signs may vary with age and sex of the patient. The pathology of CMT-X in other reported cases has been variably interpreted as axonal, demyelinating, or showing both features. Our observations emphasize the demyelinative nature.
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ranking = 0.14285714285714
keywords = neuropathy
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7/179. vincristine treatment revealing asymptomatic hereditary motor sensory neuropathy type 1A.

    A 5 year old boy developed severe weakness after receiving vincristine for treatment of acute lymphoblastic leukaemia. Although weakness improved after the discontinuation of vincristine, other symptoms suggestive of a neuropathy persisted. Neurophysiological and genetic analysis at age 8 years indicated that vincristine had induced symptoms of a hereditary sensory motor neuropathy type 1A, which had previously been asymptomatic; his genetically affected mother was also asymptomatic.
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ranking = 0.85714285714286
keywords = neuropathy
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8/179. Autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths (CMT4B).

    Hereditary motor and sensory neuropathy with focally folded myelin sheaths, or Charcot-Marie-Tooth neuropathy type 4B (CMT4B), is a distinct clinical and genetic entity belonging to the heterogeneous group of autosomal recessive demyelinating neuropathies. We first described a large inbred pedigree with 10 patients affected by CMT4B, which enabled us to uncover the genetic findings, clinical spectrum, and natural history of such a disorder. The clinical picture was characterized by infantile onset with progressive symmetric distal and proximal muscular weakness. Using homozygosity mapping and haplotype sharing analysis, we found evidence of linkage of chromosome 11q23. We then identified a second unrelated family in which two individuals were affected with CMT4B. Although the clinical findings were similar to those previously reported, we excluded the disease locus segregating in this smaller pedigree from the 11q23 region. We thus provided evidence for a second locus causing the CMT4B phenotype. All these findings indicate that CMT4B seems to be phenotypically quite homogeneous, but is genetically heterogeneous.
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ranking = 0.85714285714286
keywords = neuropathy
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9/179. Hemizygous mutation of the peripheral myelin protein 22 gene associated with charcot-marie-tooth disease type 1.

    We studied a female patient who presented with autosomal recessive or sporadic charcot-marie-tooth disease type 1 (CMT1). We found that she had a 1.5-megabase deletion in chromosome 17p11.2-p12 containing the peripheral myelin protein 22 gene (PMP22) and an Arg157Gly mutation of PMP22. Hemizygous mutation of PMP22 should be considered in patients with autosomal recessive CMT1 or with severe hereditary neuropathy with liability to pressure palsy.
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ranking = 0.14285714285714
keywords = neuropathy
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10/179. Cranial nerve involvement in CMT disease type 1 due to early growth response 2 gene mutation.

    Mutations in the gene coding for the Schwann cell transcription factor early growth response 2 (EGR2), which seems to regulate myelinogenesis and hindbrain development, have been observed in few cases of inherited neuropathy. The authors describe a unique combination of cranial nerve deficits in one member of a Charcot-Marie-Tooth 1 family carrying an EGR2 mutation (Arg381His). This finding further supports the role of EGR2 in cranial nerve development.
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ranking = 0.14285714285714
keywords = neuropathy
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