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91.
Miller LJ Patzko A Lewis RA Shy ME 《Journal of the peripheral nervous system : JPNS》2012,17(2):197-200
Mutations in MPZ cause CMT1B, the second most frequent cause of CMT1. Elegant studies with Ser63del mice suggest that Ser63del MPZ is retained in the ER where it activates the unfolded protein response (UPR) that contributes to the neuropathy. Clinical information about patients with this mutation is limited. We present clinical and electrophysiological data on a large multigenerational family with CMT1B caused by Ser63del MPZ. The patients have a classical CMT1 phenotype that is much less severe than that of patients with Arg98Cys MPZ that also activates the UPR. These results suggest that clinical presentation along cannot predict which MPZ mutations will be retained in the ER and activate the UPR. 相似文献
92.
Jaffer F Murphy SM Scoto M Healy E Rossor AM Brandner S Phadke R Selcen D Jungbluth H Muntoni F Reilly MM 《Journal of the peripheral nervous system : JPNS》2012,17(2):210-216
Mutations in Bcl-2 associated athanogene-3 (BAG3) are a rare cause of myofibrillar myopathy, characterised by rapidly progressive proximal and axial myopathy, cardiomyopathy and respiratory compromise. Neuropathy has been documented neurophysiologically in previously reported cases of BAG3-associated myofibrillar myopathy and in some cases giant axons were observed on nerve biopsies; however, neuropathy was not thought to be a dominant feature of the disease. In the context of inherited neuropathy, giant axons are typically associated with autosomal recessive giant axonal neuropathy caused by gigaxonin mutations but have also been reported in association with NEFL- and SH3TC2-associated Charcot-Marie-Tooth disease. Here, we describe four patients with heterozygous BAG3 mutations with clinical evidence of a sensorimotor neuropathy, with predominantly axonal features on neurophysiology. Three patients presented with a significant neuropathy. Muscle magnetic resonance imaging (MRI) in one patient revealed mild to moderate atrophy without prominent selectivity. Examination of sural nerve biopsies in two patients demonstrated giant axons. This report confirms the association of giant axonal neuropathy with BAG3-associated myofibrillar myopathy, and highlights that neuropathy may be a significant feature. 相似文献
93.
《Cochlear implants international》2013,14(3):184-187
AbstractObjective and importanceCharcot?Marie?Tooth (CMT) disease is the most common hereditary motor and sensory neuropathy and can result in profound sensori-neural hearing loss with deficiency in speech perception out of proportion to that which would be expected if the loss was cochlear in origin. This study investigates whether the reintroduction of auditory synchrony by means of cochlear implantation will improve speech perception in those with dys-synchrony related to impairment of temporal processing abilities secondary to CMT.Clinical presentationA 67-year-old male presented with a gradual but significant decrease in his hearing as part of a slowly progressing demyelinating peripheral neuropathy. On open-set speech discrimination he scored 0%.InterventionA Med-el FlexSOFT cochlear implant (CI) was fully inserted into the left ear with no surgical complications. The CI speech processor was fitted 1 month post-implantation and standardized speech assessments conducted at 1 week, 3 months, 9 months, and 21 months following initial fitting, gave open-set speech discrimination scores of 0, 0, 53, and 54%, respectively.ConclusionThis report demonstrates that cochlear implantation is an option to rehabilitate severe-to-profound hearing loss in adults with auditory dys-synchrony secondary to CMT disease. Progress post-implantation is likely to be slower than for the average CI user. 相似文献
94.
F Manganelli C Pisciotta V Provitera F Taioli R Iodice A Topa GM Fabrizi M Nolano L Santoro 《Journal of the peripheral nervous system : JPNS》2012,17(3):361-364
We describe the first Italian family affected by CMT2B carrying a Val162Met substitution in the RAB7 gene. The clinical and electrophysiological features of our family are similar to those of previously reported families with RAB7 mutations, also for the higher occurrence of ulcers in males. However, in this family we evaluated the autonomic nervous system, never investigated in CMT2B, by means of skin biopsy and sudomotor and cardiovascular tests. Our findings provide both pathological and functional evidence of autonomic nervous system involvement in CMT2B and expand the phenotypic characterization of CMT2B disease. 相似文献
95.
Agola JO, Jim PA, Ward HH, BasuRay S, Wandinger‐Ness A. Rab GTPases as regulators of endocytosis, targets of disease and therapeutic opportunities. Rab GTPases are well‐recognized targets in human disease, although are underexplored therapeutically. Elucidation of how mutant or dysregulated Rab GTPases and accessory proteins contribute to organ specific and systemic disease remains an area of intensive study and an essential foundation for effective drug targeting. Mutation of Rab GTPases or associated regulatory proteins causes numerous human genetic diseases. Cancer, neurodegeneration and diabetes represent examples of acquired human diseases resulting from the up‐ or downregulation or aberrant function of Rab GTPases. The broad range of physiologic processes and organ systems affected by altered Rab GTPase activity is based on pivotal roles in responding to cell signaling and metabolic demand through the coordinated regulation of membrane trafficking. The Rab‐regulated processes of cargo sorting, cytoskeletal translocation of vesicles and appropriate fusion with the target membranes control cell metabolism, viability, growth and differentiation. In this review, we focus on Rab GTPase roles in endocytosis to illustrate normal function and the consequences of dysregulation resulting in human disease. Selected examples are designed to illustrate how defects in Rab GTPase cascades alter endocytic trafficking that underlie neurologic, lipid storage, and metabolic bone disorders as well as cancer. Perspectives on potential therapeutic modulation of GTPase activity through small molecule interventions are provided. 相似文献
96.
Lois Dankwa Jessica Richardson William W. Motley Stephan Züchner Steven S. Scherer 《Journal of the peripheral nervous system : JPNS》2018,23(1):36-39
Dominant mutations in MFN2 cause a range of phenotypes, including severe, early‐onset axonal neuropathy, “classical CMT2,” and late‐onset axonal neuropathies. We report a large family with an axonal polyneuropathy, with clinical onset in the 20s, followed by slow progression. 相似文献
97.
Timothy Estilow OTR/L Allan M. Glanzman PT DPT PCS Joshua Burns PhD Ann Harrington PT DPT PhD PCS Kayla Cornett PhD Manoj P. Menezes MD PhD Rosemary Shy MD Isabella Moroni MD Emanuela Pagliano MD Davide Pareyson MD Trupti Bhandari PT Francesco Muntoni MD FRCPCH Matilde Laurá MD PhD Mary M. Reilly MD FRCP Richard S. Finkel MD Kate J. Eichinger DPT PhD David N. Herrmann MBBCH Gregory Troutman MBE Paula Bray PhD Mark Halaki PhD Michael E. Shy MD Sabrina W. Yum MD for the CMTPedS STUDY GROUP 《Muscle & nerve》2019,60(3):242-249
Introduction: Balance impairment contributes to gait dysfunction, falls, and reduced quality of life in adults with Charcot–Marie–Tooth disease (CMT) but has been minimally examined in pediatric CMT. Methods: The CMT Pediatric Scale (CMTPedS) was administered to 520 children with CMT. Associations between balance function (Bruininks–Oseretsky Test of Motor Proficiency [BOT-2]) and sensorimotor and gait impairments were investigated. Results: Daily trips/falls were reported by 42.3% of participants. Balance (BOT-2) varied by CMT subtype, was impaired in 42% of 4-year-olds, and declined with age (P < 0.001). Vibration (P < 0.001), pinprick (P < 0.004), ankle dorsiflexion strength (P < 0.001), and foot alignment (P < 0.004) were associated with BOT-2 balance (adjusted R2 = 0.28). The visual dependence of balance increased with age. Discussion: Balance impairment occurs from a young age in children with CMT. Balance intervention studies are required in pediatric CMT and should consider the degree of sensorimotor impairment, foot malalignment, and visual dependence. Muscle Nerve, 2019 相似文献
98.
Barbara W. van Paassen Camiel Verhamme Fred van Ruissen Frank Baas Karin Y. van Spaendonck‐Zwarts Marianne de Visser 《Journal of the peripheral nervous system : JPNS》2017,22(4):464-467
We report a family in which an autosomal dominantly inherited Charcot‐Marie‐Tooth (CMT) disease type 2 was suspected. The affected family members (proband, sister, father, and paternal aunt) showed intrafamilial clinical variability. The proband needed walking aids since adolescence because of generalized muscle weakness. The sister showed the same symptoms although to a lesser extent. The father and paternal aunt had foot deformity and atrophy of lower legs. A homozygous GDAP1 mutation was found in the proband and in the sister. Further testing showed compound heterozygous GDAP1 mutations in the father and paternal aunt. In this CMT2 family with a pseudodominant inheritance pattern DNA‐diagnostics revealed the presence of both homozygous and compound heterozygous GDAP1 mutations. We recommend including multiple family members in genetic studies on CMT families. 相似文献
99.
Alexander Grimm Natalie Winter Tim W. Rattay Florian Härtig Nele M. Dammeier Eva Auffenberg Marilin Koch Hubertus Axer 《Clinical neurophysiology》2017,128(12):2521-2526
Objective
Polyneuropathies are increasingly analyzed by ultrasound. Summarizing, diffuse enlargement is typical in Charcot-Marie Tooth type 1 (CMT1a), regional enlargement occurs in inflammatory neuropathies. However, a distinction of subtypes is still challenging. Therefore, this study focused on fascicle size and pattern in controls and distinct neuropathies.Methods
Cross-sectional area (CSA) of the median, ulnar and peroneal nerve (MN, UN, PN) was measured at predefined landmarks in 50 healthy controls, 15 CMT1a and 13 MMN patients. Additionally, largest fascicle size and number of visible fascicles was obtained at the mid-upper arm cross-section of the MN and UN and in the popliteal fossa cross-section of the PN.Results
Cut-off normal values for fascicle size in the MN, UN and PN were defined (<4.8 mm2, <2.8 mm2 and <3.5 mm2). In CMT1a CSA and fascicle values are significantly enlarged in all nerves, while in MMN CSA and fascicles are regionally enlarged with predominance in the upper arm nerves. The ratio of enlarged fascicles and all fascicles was significantly increased in CMT1a (>50%) in all nerves (p < 0.0001), representing diffuse fascicle enlargement, and moderately increased in MMN (>20%), representing differential fascicle enlargement (enlarged and normal fascicles at the same location) sparing the peroneal nerve (regional fascicle enlargement). Based on these findings distinct fascicle patterns were defined.Conclusion
Normal values for fascicle size could be evaluated; while CMT1a features diffuse fascicle enlargement, MMN shows regional and differential predominance with enlarged fascicles as single pathology.Significance
Pattern analysis of fascicles might facilitate distinction of several otherwise similar neuropathies. 相似文献100.
We present a patient with Charcot‐Marie‐Tooth disease with multiple bilateral symmetrical cervical nerve root calcifications. To our knowledge, such a finding has not been described in the literature in association with this disease. We propose that multiple bilateral symmetrical spinal nerve root calcifications may be an additional imaging feature, possibly diagnostic, in this hereditary motor and spinal neuropathy. 相似文献