1/18. 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.- - - - - - - - - - ranking = 1keywords = pressure (Clic here for more details about this article) |
2/18. Acute disseminated encephalomyelitis in a female with hereditary neuropathy with susceptibility to pressure palsy.A 7-year-old female presented with fever, urinary incontinence, mental regression, gait disturbance, and lethargy after diarrhea. magnetic resonance imaging revealed multifocal T(2)-weighted hypersignal lesions supportive of acute disseminated encephalomyelitis. Her mother had been diagnosed with hereditary neuropathy with susceptibility to pressure palsy. The girl was also determined to have hereditary neuropathy with liability to pressure palsy, with a 1.5-Mb deletion in chromosome 17p11.2 encompassing the gene for peripheral myelin protein 22 detected by fluorescent in situ hybridization. Hereditary peripheral neuropathies may be a factor in triggering the autoimmune demyelinating disorder of the central nervous system.- - - - - - - - - - ranking = 6keywords = pressure (Clic here for more details about this article) |
3/18. Fulminant case of hereditary neuropathy with liability to pressure palsy.Hereditary neuropathy with liability to pressure palsy (HNPP) is typified as isolated nerve palsies caused by trivial compression or trauma. It rarely presents in two extremities and even more infrequently affects all four limbs simultaneously. We present a patient who concurrently experienced right shoulder, left hand, and bilateral foot weakness mimicking several multifocal conditions. electromyography suggested HNPP and subsequent nerve biopsy and genetic testing were confirmatory. The case demonstrates that HNPP can present in a fulminant manner and should be included in the differential diagnosis of acute multiple mononeuropathies. The possible causes for such a rapid clinical course in our patient are discussed.- - - - - - - - - - ranking = 5keywords = pressure (Clic here for more details about this article) |
4/18. Screening for Charcot-Marie-Tooth type 1A and hereditary neuropathy with liability to pressure palsy in archival nerve biopsy samples by direct-double-differential PCR.Chromosomal imbalance of the peripheral myelin protein-22 gene (PMP22) is known to be the most frequent genetic abnormality in charcot-marie-tooth disease type 1 (CMT1) and hereditary neuropathy with liability to pressure palsy (HNPP). We applied a new quantitative PCR method, the direct-double-differential PCR (dddPCR), to the gene dosage determination of PMP22. The method allows the quantification of the PMP22 gene copy number independently from dna fragmentation, even in highly degraded DNA from up to 12-year-old sural nerve biopsy samples. Chromosomal imbalance of the PMP22 gene, which had been detected by examination of four microsatellites located directly adjacent to the PMP22 gene, between the CMT1A-repetition (CMT1A-REP) elements was reliably confirmed by the dddPCR. Using this method we unexpectedly identified two cases with PMP22 imbalance, although morphologically the neuropathies were of a neuronal or axonal type and not of a demyelinating type as usual. One sural nerve biopsy was from a 58-year-old male diabetes mellitus patient with a disproportionately severe polyneuropathy showing a heterozygous duplication of PMP22. The second biopsy exhibiting a heterozygous deletion of PMP22 was from a 58-year-old female patient with a more axonal than demyelinating type of neuropathy without typical tomaculous changes seemingly altered by exogenous, possibly traumatic factors other than diabetes mellitus. Thus, the dddPCR provides a fast and reliable diagnostic tool for the screening and identification of CMTIA and HNPP cases, which is fast and may be essential even when nerve biopsies show morphologically atypical changes.- - - - - - - - - - ranking = 5keywords = pressure (Clic here for more details about this article) |
5/18. Brace modification improves aerobic performance in charcot-marie-tooth disease: a single-subject design.OBJECTIVE: ankle-foot orthoses (AFOs) can lower energy expenditure in patients with hemiplegia by 10%-13%. review of the lower motor injury literature reveals insufficient physiologic evidence supporting the use or modification of AFOs in patients with lower motor neuron injury and, specifically, progressive conditions such as charcot-marie-tooth disease. We sought to test the hypothesis that optimal AFOs would improve submaximal aerobic performance and submaximal perceived exertion, while producing no change in maximal aerobic capacity. DESIGN: In an individual with charcot-marie-tooth disease, a single-subject design study was used. An A-B-A design was used, with "A" corresponding to use of the patient's old AFOs and "B" corresponding to the newly prescribed AFOs. The subject underwent treadmill exercise tolerance testing using a modified Balke protocol. Indirect calorimetry was used to measure oxygen consumption per unit time (VO2), and the Borg scale was used to measure perceived exertion. RESULTS: At the same submaximal exercise intensities, VO2, rate-pressure product, and perceived exertion were all reduced when using the modified AFOs. Additionally, these conditions allowed the subject to conduct the treadmill exercise test 20% longer. Maximal VO2 remained constant under all conditions. CONCLUSION: Optimizing the AFO prescription in a patient with charcot-marie-tooth disease can enhance physiologic performance and perceived exertion at submaximal activity levels. Larger controlled trials are necessary to further demonstrate such benefits in patients with progressive neuropathy and other causes of lower motor neuron injury.- - - - - - - - - - ranking = 1keywords = pressure (Clic here for more details about this article) |
6/18. Peripheral neuropathy in patients with hiv infection: consider dual pathology.Two hiv infected patients presented with peripheral neuropathy, in one patient this was originally ascribed to hiv associated mononeuritis multiplex and in the other to stavudine. Investigations confirmed these diagnoses and in both cases genetic analysis identified a second hereditary aetiology: in the first patient hereditary neuropathy with liability to pressure palsies and in the second hereditary motor and sensory neuropathy.- - - - - - - - - - ranking = 1keywords = pressure (Clic here for more details about this article) |
7/18. Thr(118)Met amino acid substitution in the peripheral myelin protein 22 does not influence the clinical phenotype of charcot-marie-tooth disease type 1A due to the 17p11.2-p12 duplication.The Thr(118)Met substitution in the peripheral myelin protein 22 (PMP22) gene has been detected in a number of families with demyelinating Charcot-Marie-Tooth (CMT1) neuropathy or with the hereditary neuropathy with liability to pressure palsy, but in none of them has it consistently segregated with the peripheral neuropathy. We describe here a CMT1 family (a 63-year-old man, his brother and his niece) in which two mutations on different chromosomes were found in the PMP22 gene, the 17p duplication, detected by fluorescent semiquantitative polymerase chain reaction (PCR) of microsatellite markers localized within the duplicated region on chromosome 17p11.2-p12, and the Thr(118)Met substitution, detected by direct sequencing the four coding exons of the PMP22 gene. A genotype/phenotype correlation study showed that the neuropathy segregates with the duplication and that the amino acid substitution does not seem to modify the clinical characteristics or the severity of the peripheral neuropathy. We did not find any evidence to characterize this substitution as a polymorphism in the population studied and we propose that the high frequency reported for this point mutation in the literature suggests that the Thr(118)Met substitution may be a hotspot for mutations in the PMP22 gene.- - - - - - - - - - ranking = 1keywords = pressure (Clic here for more details about this article) |
8/18. Intermittent positive airway pressure by nasal mask as a treatment for respiratory insufficiency in a patient with charcot-marie-tooth disease.charcot-marie-tooth disease (CMT) is a slowly progressive hereditary neuropathy characterised by degeneration of motor and sensory peripheral nerves resulting in distal muscle weakness with atrophy and sensory impairment. We report a 35-year-old woman with CMT presenting with respiratory failure due to a pneumonia, sputum impaction and insufficient cough reflex. After recovery, we diagnosed a very severe restrictive lung function disturbance caused by muscle weakness and a possible coexistent unilateral diaphragm paralysis. A very severe REM (Rapid eye movement sleep) related sleep hypopnea syndrome was successfully treated with Nasal Intermittent Positive pressure ventilation (NIPPV).- - - - - - - - - - ranking = 4keywords = pressure (Clic here for more details about this article) |
9/18. Diaphragmatic dysfunction in siblings with hereditary motor and sensory neuropathy (charcot-marie-tooth disease).Hereditary motor and sensory neuropathy (charcot-marie-tooth disease) is characterized by chronic degeneration of peripheral nerves and roots, resulting in distal muscle atrophy, beginning in the feet and legs and later involving the hands. The association of this disease with diaphragmatic dysfunction has not been reported. We studied a patient with hereditary motor and sensory neuropathy type 1 (charcot-marie-tooth disease) and type 2 diabetes mellitus who had severe diaphragmatic impairment. Some of the clinical findings are similar to the sleep apnea syndrome, which could lead to incorrect diagnosis and delay in the administration of appropriate therapy. Transdiaphragmatic pressure studies on the subject's brother, who also has charcot-marie-tooth disease and type 2 diabetes mellitus, revealed subclinical impairment of diaphragmatic function. These findings suggest that phrenic nerve involvement may be part of the spectrum of polyneuropathy in charcot-marie-tooth disease in association with diabetes mellitus.- - - - - - - - - - ranking = 1keywords = pressure (Clic here for more details about this article) |
10/18. Deletion in the CMT1A locus on chromosome 17p11.2 in hereditary neuropathy with liability to pressure palsies.Hereditary neuropathy with liability to pressure palsies (NHPP) is an autosomal dominant disease of peripheral nerves, characterized by recurrent focal neuropathies often with an underlying asymptomatic polyneuropathy. We report the clinical, electrophysiological, and histopathological findings in three families with HNPP and confirm the presence of a deletion on chromosome 17p11.2, including all the markers known to be duplicated in charcot-marie-tooth disease type 1A. This deletion appears to be the underlying molecular deficit in this disease and provides additional evidence for the importance of this locus for peripheral nerve function.- - - - - - - - - - ranking = 5keywords = pressure (Clic here for more details about this article) |
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