共查询到20条相似文献,搜索用时 15 毫秒
1.
2.
3.
4.
Yasuo Miki Masahiko Tomiyama Rie Haga Haruo Nishijima Chieko Suzuki Aiichiro Kurihara Kazuhiro Sugimoto Akihiro Hashiguchi Hiroshi Takashima Masayuki Baba 《Journal of neurology》2013,260(4):1147-1151
We report a family of intravenous immunoglobulin (IVIg)-responsive X-linked Charcot–Marie–Tooth disease Type 1 (CMT1X) with a novel gap junction protein 1 mutation. Two of three siblings in the family complained of subacute motor and sensory impairment, and their symptoms improved after the administration of IVIg. Additional IVIg treatment also resulted in similar improvement. The other also showed a mild improvement on IVIg. It has been suggested that an immune-mediated process is involved in the progression of neuropathy in CMT1X. The finding in our report provides evidence of susceptibility to immune-mediated demyelinating neuropathy in some form of CMT1X. Superimposed demyelinating neuropathy as well as a gradual deterioration of neuropathy over decades can be a clinical manifestation of CMT1X. 相似文献
5.
6.
Rare copy number variations by the nonrecurrent rearrangements involving PMP22 have been recently suggested to be associated with CMT1A peripheral neuropathy. As a mechanism of the nonrecurrent rearrangement,
replication-based fork stalling template switching (FoSTeS) by microhomology-mediated break-induced replication (MMBIR) has
been proposed. We found three Korean CMT1A families with putative nonrecurrent duplication. The duplications were identified
by microsatellite typing and applying a CGH microarray. The breakpoint sequences in two families suggested an Alu–Alu-mediated rearrangement with the FoSTeS by the MMBIR, and a two-step rearrangement of the replication-based FoSTeS/MMBIR and
meiosis-based recombination. The two-step mechanism has still not been reported. Segregation analysis of 17p12 microsatellite
markers and breakpoint junction analysis suggested that the nonrecurrent rearrangements are stably inherited without alteration
of junction sequence; however, they may allow some alteration of the genomic contents in duplication across generations by
recombination event. It might be the first study on the pedigree analysis of the large CMT1A families with nonrecurrent rearrangements.
It seems that the exact mechanism of the nonrecurrent rearrangements in the CMT1A may have a far more complex process than
has been expected. 相似文献
7.
8.
《Neuromuscular disorders : NMD》2018,28(8):652-659
X-linked Charcot–Marie–Tooth disease type 4 (CMTX4), caused by AIFM1 (Apoptosis-Inducing Factor, Mitochondrion associated 1) mutations and associated with deafness and cognitive impairment, is a rare subtype of Charcot–Marie–Tooth disease. Here, we report a novel missense variant of AIFM1 in a X-linked recessive Chinese family with childhood-onset, slowly progressive, isolated axonal motor and sensory neuropathy. Calf magnetic resonance imaging revealed fatty infiltration and atrophy severely involving the muscles of peroneal compartment. Pathologies exhibited abnormal mitochondrial morphology and accumulation in axoplasm of nerve fiber and subsarcolemmal area of muscle. A hemizygous variant (c.513G>A, p.Met171Ile) in the family was identified and was classified as likely pathogenic according to the standards and guidelines of the American College of Medical Genetics and Genomics. Our report expands the genetic spectrum of diseases related to AIFM1 mutations and indicates that fatty infiltration and atrophy of muscles in the peroneal compartment may be a feature of CMTX4 in early stage. 相似文献
9.
Clinical and electrophysiological characteristics of women with X-linked Charcot–Marie–Tooth disease
Luce Barbat du Closel Nathalie Bonello-Palot Yann Péréon Andoni Echaniz-Laguna Jean Philippe Camdessanche Aleksandra Nadaj-Pakleza Jean-Baptiste Chanson Simon Frachet Laurent Magy Julien Cassereau Pascal Cintas Ariane Choumert Perrine Devic Sarah Leonard Louis Robinson Gravier Dumonceau Emilien Delmont Emmanuelle Salort-Campana Françoise Bouhour Philippe Latour Tanya Stojkovic Shahram Attarian 《European journal of neurology》2023,30(10):3265-3276
10.
Berciano J Gallardo E García A Pelayo-Negro AL Infante J Combarros O 《Journal of neurology》2011,258(9):1594-1602
Forefoot pes cavus is a cardinal sign of Charcot–Marie–Tooth disease (CMT). This review is focused on the pathophysiology
of pes cavus in CMT1A duplication, which is the most common subtype of the disease. Assessment of foot deformities in CMT1A,
their prevalence and proposed mechanisms, and recent contributions of magnetic resonance imaging studies of lower-leg and
foot musculature are revised. Special attention is given to papers on foot deformities at initial stages of the disease. We
conclude that pes cavus is an early and age-dependent manifestation of CMT1A duplication. Selective denervation of intrinsic
foot musculature, particularly of the lumbricals, and not imbalance of lower-leg muscles, seems to be the initial mechanism
causing reduced ankle flexibility and forefoot cavus deformity. 相似文献
11.
《Journal of the neurological sciences》2014,336(1-2):155-160
IntroductionHeterogeneous clinical presentation and gender differences were reported in Charcot–Marie–Tooth disease type 1A (CMT1A).MethodsThis report examined demographic and clinical data collected during a randomised controlled trial, to describe the clinical spectrum of a large and well-defined cohort of CMT1A patients.ResultsAmong the 189 symptomatic patients screened, three patients (1.6%) reported first symptoms in the upper limbs, which may be misleading when establishing the clinical diagnosis. The quality of life (QoL) of patients was significantly deteriorated compared to the standard population, and slightly better compared to multiple sclerosis patients. According to the literature, patients reported several disorders which may be associated with CMT1A, including auditory dysfunction (7.9%), Carpal Tunnel Syndrome (CTS) (7.9%) or sleep apnoea (4.2%). Compared to available data, we reported more patients with CTS and fewer patients with sleep apnoea. Women were more affected by CTS than men (11% and 2.8%, respectively). Women also reported an earlier onset of symptoms than men (8.6 ± 9.5 years and 13.1 ± 14 years, respectively), higher deterioration of their QoL and higher disability of their upper limb, assessed by Overall Neuropathy Limitation Scale (p = 0.023).ConclusionsThis information will be useful for better understanding of this disease and for designing future clinical studies. 相似文献
12.
Noriko Nishikura Takanori Yamagata Takao Morimune Jun Matsui Tatsuyuki Sokoda Chihiro Sawai Yuko Sakaue Yujiro Higuchi Akihiro Hashiguchi Hiroshi Takashima Yoshihiro Takeuchi Yoshihiro Maruo 《Brain & development》2019,41(2):201-204
X-linked Charcot–Marie–Tooth disease type 5 (CMTX5) is an X-linked disorder characterized by early-onset sensorineural hearing impairment, peripheral neuropathy, and progressive optic atrophy. It is caused by a loss-of-function mutation in the phosphoribosyl pyrophosphate synthetase 1 gene (PRPS1), which encodes isoform I of phosphoribosyl pyrophosphate synthetase (PRS-I). A decreased activity leads to nonsyndromic sensorineural deafness (DFN2), CMTX5, and Arts syndrome depending upon residual PRS-I activity. Clinical and neurophysiological features of pediatric CMTX5 are poorly defined. We report two male siblings with peripheral neuropathy and prelingual sensorineural hearing loss who carried a novel c.319A>G (p.Ile107Val) PRPS1 missense mutation. They exhibited recurrent episodes of transient proximal muscle weakness, showing Gowers’ sign and waddling gait after suffering from febrile illness. This transient weakness has not been previously reported in CMTX5. A patient with Arts syndrome was reported to have transient proximal weakness after febrile illness. The transient weakness presenting in both CMTX5 and Arts syndrome suggests an overlap of signs and a continuous spectrum of PRS-I hypoactivity disease. Children presenting with transient neurological signs should be evaluated for peripheral neuropathy and consider genetic analysis for PRPS1. 相似文献
13.
14.
17p duplicated Charcot–Marie–Tooth 1A 总被引:1,自引:0,他引:1
Marques W Freitas MR Nascimento OJ Oliveira AB Calia L Melo A Lucena R Rocha V Barreira AA 《Journal of neurology》2005,252(8):972-979
The most frequent
type of Charcot–Marie–Tooth
(CMT) neuropathy is that associated
with the 17p11.2–p12 chromosome
duplication, whose characteristics
have been well described in
European and North American
populations. In this study, we analyzed
a Brazilian population exhibiting
the mutation, found in 57
patients from 42 families (79%) of
a cohort of 53 families with demyelinating
CMT. Almost 20% of
the duplicated cases were sporadic.
In 77% of the duplicated families
the mutation event occurred in the
hot spot area of the CMT1A–Rep
region. Forty–five percent of patients
were females, 84% were Caucasians
and 13% of African descent.
Distal limb weakness was the
most frequent abnormality, appearing
in 84% of patients, although
uncommon manifestations
such as severe proximal weakness,
floppy baby syndrome, diaphragmatic
weakness and severe scoliosis
were also observed. One patient
was wheelchair–bound, and three
suffered severe hand weakness.
Sensory abnormalities were detected
in 84% of the cases, but 80%
were unaware of this impairment.
Twelve patients complained of positive
sensory manifestations such
as pain and paresthesias. Progression
was reported by 40%. Motor
conduction velocities in the upper
limbs were always less than 35 m/s,
and less than 30.4 m/s in the peroneal
nerve. The findings of this
study expand the clinical spectrum
of the disease. 相似文献
15.
16.
17.
Silvia Cipriani Marta Guerrero-Valero Stefano Tozza Edward Zhao Veith Vollmer Danique Beijer Matt Danzi Cristina Rivellini Dejan Lazarevic Giovanni Battista Pipitone Bianca Rose Grosz Costanza Lamperti Stefania Bianchi Marzoli Paola Carrera Marcella Devoto Chiara Pisciotta Davide Pareyson Marina Kennerson Stefano C. Previtali Stephan Zuchner Steven S. Scherer Fiore Manganelli Martin Bähler Alessandra Bolino 《European journal of neurology》2023,30(2):511-526
18.
Varying degrees of optic neuropathy can be seen in patients with Charcot–Marie–Tooth (CMT) disease. To define and characterize the extent of optic neuropathy in patients with CMT2A and CMT1A, two patients from both sub-classifications were evaluated. All patients underwent complete neuro-ophthalmic examinations, and optical coherence (OCT) measurements of the retinal nerve fiber layer (RNFL) and ganglion cell layer complex (GCC) were obtained, along with pattern visual evoked potential (VEP) and pattern electroretinogram (ERG) recordings. RNFL thickness measurements were decreased in both patients with CMT2A, and normal in both patients with CMT1A. GCC measurements were decreased in both patients with CMT2A, mildly decreased in one patient with CMT1A and normal in the second CMT1A patient. VEP latencies were delayed in one patient with CMT2A and one patient with CMT1A. VEP latencies were immeasurable in the other CMT2A patient and not obtained in the second CMT1A patient. Pattern ERG P50-N95 amplitudes were decreased in both patients with CMT2A and normal in one patient with CMT1A. The pattern ERG was immeasurable in the second patient with CMT1A. The pattern of RNFL and GCC thinning in CMT2A with optic neuropathy, a subset of HMSN VI, closely resembles that seen in other mitochondrial optic neuropathies. 相似文献
19.
Lorena Lorefice Maria Rita Murru Giancarlo Coghe Giuseppe Fenu Daniela Corongiu Jessica Frau Stefania Tranquilli Paolo Tacconi Alessandro Vannelli Giovanni Marrosu Elena Mamusa Eleonora Cocco Maria Giovanna Marrosu 《Neurological sciences》2017,38(6):1019-1025
Charcot–Marie–Tooth disease (CMT) is characterised by great variability of genetic subtypes. This study aimed to assess the genetic subtypes of CMT disease in the Sardinian population. Genetic screening was performed for CMT cases (CMT1, CMT2, and hereditary neuropathy with susceptibility to pressure palsies [HNPP]). A total of 1,043 subjects (119 index cases) were evaluated. In CMT1 index cases (69/119; 58%), PMP22 duplication at 17p11.2 was the most frequent genetic diagnosis (60/69; 87%), followed by mutations in the GJB1 gene (5/69; 7.2%), in the SH3TC2 gene (3/69; 4.4%) and PMP22 Gly107Val point mutation (1/69; 1.4%). The CMT2 group (24/119; 20.1%) comprised 10/24 (41.6%) patients carrying MPZ gene Ser44Phe mutation, 6/24 (25%) with mutations in MFN2 and HSPB1, and 1/24 (4.2%) in GJB1 and LRSAM1. In the HNPP group (26/119; 21.9%), the majority of patients reported the PMP22 deletion (25/26; 96.2%). Further studies are needed to comprehend the overall picture of the disease in Mediterranean area. 相似文献
20.
Ana L. Pelayo-Negro Elena Gallardo Antonio García Pascual Sánchez-Juan Jon Infante José Berciano 《Journal of neurology》2014,261(4):675-685
The objective of this study was to analyze Charcot–Marie–Tooth disease type 1A (CMT1A) evolution. We conducted a 2-year longitudinal study in 14 CMT1A patients and 14 age- and sex-matched controls. In the patients, we performed neurological examination with hand-held dynamometry, electrophysiology, and lower-limb muscle MRI, both at baseline and 2 years later, while controls were examined at baseline only. Patients’ ages ranged from 12 to 51 years. Outstanding manifestations on initial evaluation included pes cavus, areflexia, lower-limb weakness, and foot hypopallesthesia. In evaluating muscle power, good correlation was observed between manual testing and dynamometry. Compared to controls, Lunge, 10-Meter-Walking, and 9-Hole-Peg tests were impaired. Their CMT neuropathy score and functional disability scale showed that patients exhibited mild phenotype and at most slight walking difficulty. Electrophysiology revealed marked nerve conduction slowing and variable compound muscle action potential amplitude reduction. On lower-limb muscle MRI, there was distally accentuated fatty infiltration accompanied by edema in calf muscles. All these clinico-electrophysiological and imaging findings remained almost unaltered during monitoring. Using multivariate analysis, no significant predictors of progression associated to the disease were obtained. We conclude that in the 2-year period of study, CMT1A patients showed mild progression with good concordance between clinico-electrophysiological and imaging findings. 相似文献