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1/292. Fibrillary glomerulonephritis and charcot-marie-tooth disease.

    We report the case of a young white man with charcot-marie-tooth disease type 1 that began at 4 years. At 15 years, he developed proteinuria, arterial hypertension, and renal insufficiency. Renal biopsy specimens studied by electron microscopy showed deposition of nonamyloidotic microfibrils. This is the first report of fibrillary glomerulopathy associated with this neurological disorder. ( info)

2/292. 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. ( info)

3/292. 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. ( info)

4/292. 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. ( info)

5/292. 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. ( info)

6/292. Clinical and electrophysiological study in French-Canadian population with charcot-marie-tooth disease type 1A associated with 17p11.2 duplication.

    BACKGROUND: The aim of the present study was to examine the frequency and the phenotypic manifestations in a French-Canadian population with a chromosome 17p11.2 duplication (Charcot-Marie-Tooth type 1A, CMT-1A). methods: Molecular analysis were performed by Southern blot using pVAW409R3a probe. Clinical evaluation was carried out according to the scale defined by the European HMSN Consortium. RESULTS: The frequency of duplication was found to be similar in the adult (70.8%) and pediatric (72.7%) populations. Onset of symptoms occurred before 20 years of age in 85.7% of adult cases and before the age of 5 in 80% of the pediatric cases. The classical CMT syndrome was observed in 77% of the cases and the syndrome was associated with additional features in 15% of cases in the adult population. All the children presented with classical CMT syndrome with no additional features. There was a significant correlation between the disability score and the duration of the disease but no correlation was found between median nerve conduction velocity and the functional handicap, the age at onset or the duration of the disease. In one family, there was a very conspicuous anticipation over five observed generations. CONCLUSION: This study reveals that the age at onset, the clinical and electrophysiological variability as well as the functional disability variations in a French-Canadian population did not differ from those reported in other populations. ( info)

7/292. 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. ( info)

8/292. 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. ( info)

9/292. A novel mutation (D305V) in the early growth response 2 gene is associated with severe Charcot-Marie-Tooth type 1 disease.

    Hereditary motor and sensory neuropathies (HMSN) comprises a wide clinical spectrum of related disorders with defects in peripheral nerve myelination. Charcot-Marie-Tooth type 1 (CMT1) is the most common form and is usually a mild disease with onset in the first or second decade; however there is a interfamilial and intrafamilial clinical variation, ranging from asymptomatic expression to severe muscular weakness and atrophy. Recently point mutations in the early growth response 2 gene (EGR2/Krox-20) have been associated with hereditary myelinopathies. We investigated for mutations at the EGR2 gene a patient with severe CMT1 phenotype. Direct sequencing of EGR2 gene showed a heterozygous A T transversion at nucleotide 1064 that predicts an Asp305Val substitution within the first zinc-finger domain. The finding of a novel EGR2 mutation associated with a different phenotype confirms that peripheral neuropathies represent a continuum spectrum of related disorders due to an underlying defect in myelination. ( info)

10/292. 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. ( info)
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