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PubMed1993

[A case of hereditary motor and sensory neuropathy with vocal cords palsy and diaphragmatic weakness].

A case of hereditary motor and sensory neuropathy (HMSN) type 1 (Charcot-Marie-Tooth disease (CMT)) is reported with vocal cords palsy, deafness, diaphragmatic weakness, and cerebellopontine atrophy. A 42-year-old man was admitted to our hospital in April, 1991 with marked respiratory distress. He had been diagnosed as having CMT 14 years previously. On admission to our hospital, he revealed dyspnea with marked stridor during inspiration. Physical examination showed marked use of respiratory accessory muscles with thoracoabdominal paradox in the supine position. Neurologic examination revealed tonic pupils, mild bilateral weakness of facial muscles, deafness, mild bulbar palsy, severe wasting and weakness in both proximal and distal muscles of the arms and legs, areflexia, distal loss of all sensory modalities. Pes cavus and hammer toe were present. Movement of upper extremities was ataxic. No hypertrophic changes were noted in his peripheral nerves. Peripheral nerve conduction study showed undetectable both sensory and motor action potentials. Electromyography showed evidence of denervation, more marked in distal muscles. Auditory brain stem response was undetectable. Chest radiographic film showed a normal-sized heart with marked elevation of both hemidiaphragm. Laryngofiberscopy confirmed the presence of bilateral vocal cord paralysis without tumor formation, inflammation or anomaly. The vocal cords lay near the midline and did not show any movement during respiration. Moderate cerebellopontine atrophy was confirmed on MRI scan. A sural nerve section showed severe decrease of myelinated fibers, and onion bulbs. Diagnosis of HMSN type 1 was made by clinical, electrodiagnostic, and sural nerve sections study.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗
PubMedDate not supplied

[Contribution to our knowledge of Thévenard's ulcero-mutilating acropathy].

Four patients presenting ulcerative mutilating acropathy (UMA) (Thévenard's disease or Denny-Brown's hereditary sensory neuropathy) are reported: in 3 cases (2 of them are siblings) the neuropathy was familiar with a dominant transmission, the fourth case was sporadic. A fifth patient, member of one of the families with UMA, had a sensory motor neuropathy (type I of Charcot Marie Tooth disease) without acropathies. Following examinations have been performed: EMG and motor and sensory nerve conduction velocities in 4 cases, investigation of content of free aminoacids in serum and cerebrospinal fluid in 3 cases, kinetic arteriographies of the legs in 1 case, histology of sural nerve in 1 case. All patients had a mixed motor and sensory impairment. Neurophysiological tests showed in some cases a neural damage, in others a neuronal compromission, this suggesting different diseases. The presence of kiphoscoliosis, oligophrenia and loss of hearing, in some siblings of one family, is ascribed to an overlap with Friedreich disease. Links between Thévenard, Charcot Marie Tooth and Friedreich diseases are discussed.

Adult↗
PubMed1995

[An unusual case of peroneal muscular atrophy with rigidity, polyneuropathy, mental retardation, and diabetes mellitus developed in familial Parkinson's disease].

Familial polyneuropathy mimicking Charcot-Marie-Tooth disease associated with parkinsonism and dementia has been reported in literature. We present with similar peroneal muscular atrophy, rigidity of upper extremities, severe peripheral neuropathy, mental retardation and diabetes mellitus. The patient, a 42-year-old man, developed progressive muscle weakness, mental retardation and difficulty in walking in childhood. Because of his pes cavus, he had three surgical operations. At the age of 20 years, he developed distal muscular atrophy of lower limbs. On neurological examination, all limb muscles were atrophic, especially in lower one third of the thigh. Rigidity was noted in the upper extremities. Deep tendon reflexes were hyperactive in the upper and diminished in the lower extremities. Muscle CT revealed low density areas in all the muscles examined, specially in the gastrocnemius and anterior tibial muscles. Needle EMG showed neurogenic change in the forearm, but not in the lower limbs, because of no voluntary contractions obtained due to severe muscle atrophy. Marked slowing of motor conduction velocity with muscle action potentials of very low amplitude was found in the ulnar nerve. Muscle action potentials were not elicited in the median and peroneal nerves. Sensory action potentials were not elicited from the median, ulnar and sural nerves. These findings were consistent with axonal polyneuropathy. In the sural nerve biopsy, the densities of myelinated fibers were markedly decreased. However, unmyelinated fiber densities were relatively preserved. Onion bulb formation was not found. This patient may be classified into hereditary motor-sensory neuropathy (HMSN) type II based on the clinical findings delayed nerve conduction velocities and axonal degeneration in the sural nerve. He has also diabetes mellitus. CT of the brain revealed nothing particular. He is one of members with familial Parkinson's disease (PD) developed in Sagamihara. Peroneal muscular atrophies are not necessarily associated with PD, though it has been occasionally complicated in various neuro-degenerative diseases including parkinsonism. We are now following the patient to detect the symptom of Parkinson's disease for early treatment.

Adult↗
PubMed2004

Early abnormalities in sciatic nerve function and structure in a rat model of Charcot-Marie-Tooth type 1A disease.

We investigated early peripheral nervous system impairment in PMP22-transgenic rats ("CMT rat"), an established animal model for Charcot-Marie-Tooth disease 1A, at postnatal day 30 (P30), when the clinical phenotype is not yet apparent. Hemizygous CMT1A rats and wildtype littermates were studied by means of behavioral examination, electrophysiology, molecular biology, and light microscopy analysis. Behavioral studies only showed, a mild, but significant, decrease in toe spread 1-5, suggesting a weakness of distal foot muscles in CMT1A rats compared with normal littermates. Nerve conduction studies disclosed a severe slowing in motor conduction velocity, a temporal dispersion and a dramatic decrease of amplitude of motor waves in P30 transgenic animals. Coherently with a demyelinating process, affected nerves showed a significant thinning of myelin. Interestingly, axonal diameter and area were unchanged, but expression of non-phosphorylated neurofilaments was increased in CMT1A rats compared with normal controls. Our results confirm the fidelity of this animal model to human disease. Similarly, in young CMT1A patients, the MCV is significantly reduced and the muscle weakness is confined to distal segments, whereas morphological and morphometrical signs of axonal atrophy are absent. However, the presence of a molecular and functional damage of the axons suggests that this may be the correct moment to start neuroprotective therapies.

Age Factors↗
PubMed2005

Molecular alterations resulting from frameshift mutations in peripheral myelin protein 22: implications for neuropathy severity.

Alterations in peripheral myelin protein 22 (PMP22) expression are associated with a heterogeneous group of hereditary demyelinating peripheral neuropathies. Two mutations at glycine 94, a single guanine insertion or deletion in PMP22, result in different reading frameshifts and, consequently, an extended G94fsX222 or a truncated G94fsX110 protein, respectively. Both of these autosomal dominant mutations alter the second half of PMP22 and yet are linked to clinical phenotypes with distinct severities. The G94fsX222 is associated with hereditary neuropathy with liability to pressure palsies, whereas G94fsX110 causes severe neuropathy diagnosed as Dejerine-Sottas disease or Charcot-Marie-Tooth disease type IA. To investigate the subcellular changes associated with the G94 frameshift mutations, we expressed epitope-tagged forms in primary rat Schwann cells. Biochemical and immunolabeling studies indicate that, unlike the wild-type protein, which is targeted for the plasma membrane, frameshift PMP22s are retained in the cell, prior to reaching the medial Golgi compartment. Similar to Wt-PMP22, both frameshift mutants are targeted for proteasomal degradation and accumulate in detergent-insoluble, ubiquitin-containing aggregates upon inhibition of this pathway. The extended frameshift PMP22 shows the ability to form spontaneous aggregates in the absence of proteasome inhibition. On the other hand, Schwann cells expressing the truncated protein proliferate at a significantly higher rate than Schwann cells expressing the wild-type or the extended PMP22. In summary, these results suggest that a greater potential for PMP22 aggregation is associated with a less severe phenotype, whereas dysregulation of Schwann cell proliferation is linked to severe neuropathy.

Animals↗
PubMed2002

Oct6, a transcription factor controlling myelination, is a marker for active nerve regeneration in peripheral neuropathies.

Three transcription factors, Krox20 (EGR2), Oct6 (SCIP/Tst1) and Sox10, are considered necessary for transition from the nonmyelinating to the myelinating stage of Schwann cell development. We immunohistochemically studied Oct6 expression in peripheral nerve specimens from 25 patients with various diseases including Charcot-Marie-Tooth disease type 1A (CMT1A). Oct6 was present in cytoplasm of Schwann cells associated with normal-appearing myelinated nerve fibers, but not in nuclei. Expression was seen in nuclei of Schwann cells in the early phase of acute axonal degeneration; nuclear expression peaked at the regenerative stage. Schwann cells forming "onion bulbs" expressed Oct6 in chronic inflammatory demyelinating polyneuropathy (CIDP), but showed minimal expression in CMT1A, reflecting their proliferative activity in CIDP. Nerves showing chronic axonal loss had no expression. Oct6, then, may be a marker for dedifferentiation of adult Schwann cells and active nerve regeneration.

Adult↗
PubMed1981

The clinical spectrum of hexosaminidase deficiency diseases.

Hexosaminidase deficiency diseases or GM2-gangliosidoses were originally described as infantile encephalopathies. Recently, hexosaminidase deficiencies have been found with different phenotypes, including juvenile and adult encephalopathies, cerebellar ataxias, and motor neuron diseases. Individual cases have resembled Ramsey-Hunt syndrome, olivopontocerebellar ataxia, Friedreich ataxia, amyotrophic lateral sclerosis, Kugelberg-Welander disease, Fazio-Londe disease, and Charcot-Marie-Tooth disease. Tremor, dystonia, spastic paresis, and psychosis have been seen. Since few diagnosable causes for these system atrophies are known, these patients should be tested for hexosaminidase deficiency. These recessive disorders fit a multiple loci/multiple alleles genetic scheme, and a clinical genetic classification is presented.

Adult↗
PubMed2026

P2X7 Receptor in Rare Diseases: Shared Molecular Mechanisms and Therapeutic Implications.

Rare diseases (RDs) are individually uncommon but collectively affect a large global population, and the vast majority still lack effective disease-modifying therapies. With advances in genomics and data-sharing platforms, research has increasingly shifted from a single-disease perspective to the search for convergent molecular pathways that might be shared across clinically distinct entities. In this context, the purinergic P2X7 receptor (P2X7R) has emerged as a putative "shared molecular platform" due to its central role in inflammation amplification, cell death and immune regulation. P2X7R is an ATP-gated ion channel with unique structural and functional features: under high extracellular ATP, it not only forms a non-selective cation channel but can also dilate into a "large pore" permeable to macromolecules, thereby triggering Ca2+overload, NLRP3 inflammasome assembly, reactive oxygen species (ROS) production and apoptotic/necrotic-like cell death. This review briefly outlines the epidemiology of RDs and the structural-functional characteristics of P2X7R, then systematically summarizes current evidence linking P2X7R to multiple rare diseases, including Charcot-Marie-Tooth disease, Guillain-Barré syndrome, amyotrophic lateral sclerosis, Huntington's disease, multiple sclerosis, and selected inflammatory and metabolic RDs (CAPS, familial Mediterranean fever, Systemic sclerosis, Dravet syndrome and Gaucher disease). By comparing P2X7R expression and functional alterations, downstream signaling pathways and pharmacological data from animal models across these conditions, we propose that a P2X7R-dependent network centered on a "Ca2+-NLRP3-inflammation/cell death axis" may constitute a common pathogenic backbone for diverse RDs. At the same time, disease-specific spatiotemporal expression patterns of P2X7R in central vs peripheral nervous systems and in immune vs target organ cells confer marked context dependence and "double-edged sword" properties. Finally, we discuss opportunities and challenges for P2X7R-targeted strategies, including the impact of disease stage and sex differences on therapeutic efficacy, and key bottlenecks in translating preclinical findings into clinical benefit. A deeper understanding of both shared and disease-specific roles of P2X7R may provide a conceptual framework and therapeutic entry point for precision stratification and multi-target interventions in rare diseases.

P2X7 receptor↗
PubMed1999

MRI of the cauda equina in CIDP: clinical correlations.

Isolated reports have documented enhancement and/or enlargement of spinal nerve roots on magnetic resonance imaging (MRI) in patients with chronic inflammatory demyelinating polyradiculoneuropathy (CIDP). This work examines those findings in a consecutive series of 16 patients with CIDP, with blinded comparison to MRI in 13 disease controls, including five patients with Charcot-Marie-Tooth disease type 1A. MRI sequences consisted of T1 weighted sagittal and axial views, before and after administration of gadolinium. Blinded MRI interpretation was performed independently by two neuroradiologists. MRI results were correlated with data collected from chart review. Enhancement of the cauda equina was seen in 11 of 16 CIDP patients (69%), and in none of 13 control subjects. Nerve roots were enlarged, most significantly in the extraforaminal region, in three CIDP patients, and in one patient with Charcot-Marie-Tooth type 1A. MRI findings did not correlate with disease activity and severity, nor with any clinical or laboratory features in patients with CIDP.

Adolescent↗
PubMed1998

Orthopedic management of neuromuscular disorders in children.

In many cases, the orthopedic surgeon may be the first consultant requested to assess complaints of lower extremity weakness or deformity to result from such conditions and must remain alert to the primary diagnosis. In addition, the orthopedic surgeon should be prepared to guide appropriate physical therapy, prescribe orthotics, and perform surgery to improve function, prevent deformity, or provide comfort when necessary. Most deformities of the extremities result from a combination of muscle weakness and imbalance, and surgical procedures are aimed at correcting existing deformity and rebalancing existing musculature by release or transfer. Skeletally immature patients with neuromuscular disorders are also susceptible to the development of scoliosis, which may impair comfortable sitting or already compromised pulmonary function. This article reviews the clinical manifestation and orthopedic management of Duchenne's muscular dystrophy, spinal muscular atrophy, facioscapulohumeral dystrophy, and Charcot-Marie-Tooth disease.

Adolescent↗
PubMed1991

Serum manganese-superoxide dismutase in patients with neuromuscular disorders as judged by an ELISA.

Manganese-superoxide dismutase (Mn-SOD) concentration was measured in sera from 37 healthy controls and 101 patients with 11 forms of neuromuscular diseases including Duchenne muscular dystrophy (DMD) and polymyositis (PMS) by an enzyme-linked immunosorbent assay with the use of a monoclonal antibody against human liver Mn-SOD. Serum from patients with DMD had a significantly (P less than 0.05) lower concentration of Mn-SOD than control serum. On the other hand, the concentration of Mn-SOD was markedly higher in the serum of patients with untreated form of acute PMS. The enzyme appeared to provide a good index for monitoring of responses to treatment of acute PMS. Of other neuromuscular diseases Mn-SOD concentration decreased significantly (P less than 0.05) in Charcot-Marie-Tooth disease and Kennedy-Alter-Sung syndrome but increased significantly (P less than 0.05) in human T-cell lymphotrophic viruses-I-associated myelopathy. This enzyme profile seems to be specific to each neuromuscular disease.

Adolescent↗
PubMed2000

[Hereditary neuropathies].

Hereditary neuropathies are the most frequent genetically determined disease in neurology. The peripheral motor and sensory form is the Charcot-Marie-Tooth disease. The underlying genetic defects are now known for many of the demyelinating form. Several studies have identified the mutations on genes coding proteins of peripheral myelin. This has important implications for both diagnosis and genetic counselling in this group of conditions. The genetic defect in most cases of familial amyloid polyneuropathy is better known and should be considered especially in late-onset forms.

Charcot-Marie-Tooth Disease↗
PubMed1985

Biochemical rationale and the cardiac response of patients with muscle disease to therapy with coenzyme Q10.

Cardiac disease is commonly associated with virtually every form of muscular dystrophy and myopathy. A double-blind and open crossover trial on the oral administration of coenzyme Q10 (CoQ10) to 12 patients with progressive muscular dystrophies and neurogenic atrophies was conducted. These diseases included the Duchenne, Becker, and limb-girdle dystrophies, myotonic dystrophy, Charcot-Marie-Tooth disease, and Welander disease. The impaired cardiac function was noninvasively and extensively monitored by impedance cardiography. Solely by significant change or no change in stroke volume and cardiac output, all 8 patients on blind CoQ10 and all 4 on blind placebo were correctly assigned (P less than 0.003). After the limited 3-month trial, improved physical well-being was observed for 4/8 treated patients and for 0/4 placebo patients; of the latter, 3/4 improved on CoQ10; 2/8 patients resigned before crossover; 5/6 on CoQ10 in crossover maintained improved cardiac function; 1/6 crossed over from CoQ10 to placebo relapsed. The rationale of this trial was based on known mitochondrial myopathies, which involve respiratory enzymes, the known presence of CoQ10 in respiration, and prior clinical data on CoQ10 and dystrophy. These results indicate that the impaired myocardial function of such patients with muscular disease may have some association with impaired function of skeletal muscle, both of which may be improved by CoQ10 therapy. The cardiac improvement was definitely positive. The improvement in well-being was subjective, but probably real. Likely, CoQ10 does not alter genetic defects but can benefit the sequelae of mitochondrial impairment from such defects. CoQ10 is the only known substance that offers a safe and improved quality of life for such patients having muscle disease, and it is based on intrinsic bioenergetics.

Administration, Oral↗
PubMed1991

A cross-sectional analysis of aspartate aminotransferase in human gingival crevicular fluid.

Previous investigation has shown that the concentration of aspartate aminotransferase (AST), an established serum marker for cardiac and liver damage in humans, is significantly elevated in samples of gingival crevicular fluid (GCF) from ligated teeth in beagle dogs. This paper reports on a cross-sectional study of the relationships between AST in GCF and clinical indices of human periodontal disease in 60 patients with mild to moderate adult periodontitis. AST standardized to a 30-second collection interval (AST30) showed substantial (multiple regression R2 = 0.61) association with summary indices of patient disease status, modest association (partial R2 = 0.22) with tooth disease status within patient, and weaker (partial R2 = 0.12) but statistically significant association with site-to-site variation in disease at the same tooth. AST concentration showed modest (R2 = 0.30) between-patient relationship with clinical indices, but no clinically significant relationship with these indices between sites within patients, suggesting a rough proportionality between accumulated enzyme and GCF volume at sites with varying stages of disease. The relationship between GCF volume and probing depth also appears central to interpretation of enzyme assays. Clinical measures of past periodontitis and current inflammatory disease are cross-sectionally related to variation in AST30, across patients and sites within the same patient. Considerable residual variation, especially elevated AST30 in the absence of clear signs of disease, may result from varying levels of current disease activity, not reflected in clinical measures.

Adult↗
PubMed1999

Impaired intracellular trafficking is a common disease mechanism of PMP22 point mutations in peripheral neuropathies.

The most common forms of hereditary motor and sensory neuropathies (HMSN) or Charcot-Marie-Tooth disease (CMT) are associated with mutations affecting myelin genes in the peripheral nervous system. A minor subgroup of CMT type 1A (CMT1A) is caused by point mutations in the gene encoding the peripheral myelin protein 22 (PMP22). To study the mechanisms by which these mutations cause the CMT pathology, we transiently transfected COS7 and Schwann cells with wild-type and PMP22 expression constructs carrying six representative dominant or de novo point mutations and one putative recessive point mutation. All but one of the first group of mutant PMP22 proteins failed to be incorporated into the plasma membrane and were retained in intracellular compartments of transfected cells. Surprisingly, the recessive PMP22 mutation produced a protein that was also mildly impaired in trafficking. Thus, our results suggest a common disease mechanism underlying the pathology of CMT1A due to PMP22 point mutations.

Amino Acid Sequence↗
PubMed1995

Two successful double-blind trials with coenzyme Q10 (vitamin Q10) on muscular dystrophies and neurogenic atrophies.

Coenzyme Q10 (vitamin Q10) is biosynthesized in the human body and is functional in bioenergetics, anti-oxidation reactions, and in growth control, etc. It is indispensable to health and survival. The first double-blind trial was with twelve patients, ranging from 7-69 years of age, having diseases including the Duchenne, Becker, and the limb-girdle dystrophies, myotonic dystrophy. Charcot-Marie-Tooth disease, and the Welander disease. The control coenzyme Q10 (CoQ10) blood level was low and ranged from 0.5-0.84 microgram/ml. They were treated for three months with 100 mg daily of CoQ10 and a matching placebo. The second double-blind trial was similar with fifteen patients having the same categories of disease. Since cardiac disease is established to be associated with these muscle diseases, cardiac function was blindly monitored, and not one mistake was made in assigning CoQ10 and placebo to the patients in both trials. Definitely improved physical performance was recorded. In retrospect, a dosage of 100 mg was too low although effective and safe. Patients suffering from these muscle dystrophies and the like, should be treated with vitamin Q10 indefinitely.

Adolescent↗
PubMed1979

Cysts and sinuses of the face resulting from dental abscesses.

Cysts and sinuses of the face and neck should always bring to mind the possibility of causative underlying dental disease. This should be investigated by history, physical examination and appropriate roentgenograms of the teeth. Abscesses of the teeth are the most common dental causes for the suspicious facial mass or sinus tract. Appropriate management includes extraction or root canal therapy of the diseases tooth. Any residual facial scar can later be excised and reconstructed as appropriate.

Abscess↗
PubMed1994

Complex genetic disease: can genetic strategies in Alzheimer's disease and new genetic mechanisms be applied to epilepsy?

Strategies used in molecular genetics have changed modern neurology. The gene or genes responsible for several major neurologic diseases have now been identified using "reverse" or positional genetics. Unexpected new genetic mechanisms have been discovered in human neurologic diseases, including (a) identical mutations of the prion protein gene in Creutzfeldt-Jakob disease and fatal familial insomnia with the phenotypic expression directed by an accompanying polymorphism; (b) stable duplications of chromosome 17 in Charcot-Marie-Tooth disease (type 1A) that involve many genes, only one of which appears to cause neuropathy; and (c) highly variable, dynamic mutations in myotonic dystrophy, fragile X syndrome, and Kennedy's syndrome that modulate variable expressivity in multiple tissues. There is growing recognition that neurologic diseases are often complex genetic diseases with multifactorial rather than simple modes of inheritance. For example, genetic association/linkage strategies have interacted with biochemistry and immunopathology studies to produce new insights into the disease mechanism of late-onset Alzheimer's disease. The role of apolipoprotein E in late-onset Alzheimer's disease is an example of how new analytical techniques of genetic disease can be applied to dissect multiple genes. Similar research strategies are suggested for the study of epilepsy as a complex disease.

Alleles↗