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To identify lesions responsible for vocal cord abductor paralysis (VCAP) in multiple system atrophy (MSA), we performed a morphometric study of the nucleus ambiguus which innervates the intrinsic laryngeal muscles.Two autopsied cases of MSA presenting with VCAP and one control were examined. Both cases of MSA showed selective neurogenic atrophy of the posterior cricoarytenoid muscles among the intrinsic laryngeal muscles, while no abnormalities were seen in the control. From a block of the medulla oblongata, sections 10 microm thickness were cut serially without spacing and stained with cresyl violet. The ambiguus neurons were counted in all the sections to make a histogram.In the control case, ambiguus neurons showed densely populated areas and sparsely populated areas alternately with significant difference in the mean neuronal density between two areas. In MSA, ambiguus neurons were significantly decreased in number at all levels. It indicates that the neurogenic atrophy of the posterior cricoarytenoid muscle is derived from the neuronal loss of the nucleus ambiguus.Though it has still been controversial whether or not the ambiguus neurons are decreased in number in MSA with VCAP, we speculated possible reasons for the disagreement on the involvement of the nucleus ambiguus as follows: different mechanism of VCAP are playing role, and histometric data have been disturbed by factors such as split-cell counting error and marked variation in the distribution of the ambiguus neurons.

Rigid spine syndrome (RSS) is thought to be a group of heterogeneous muscle disorders. We reviewed the clinical and myopathologic findings of 55 patients with RSS including 49 previously reported and our own 6 patients. The results were as follows: the first, 80% showed restrictive ventilatory failure and 40% atrophy of the sternocleidomastoid muscle (SCM), which became manifest in the early stage of the illness, namely in less than 5 years from the onset. The second, paraspinal muscles usually began to be involved from the cervical semispinal muscle extending to other paraspinal muscles such as the more laterally located splenium muscle. The third, muscle biopsy demonstrated rimmed vacuoles (RV) in 41% of the 55 patients. RV were more frequently seen in the paraspinal muscles than the limb muscles, where marked myopathic changes of endomysial fibrosis and increased variation of the muscle fiber size were recognized. Based on the anatomical analysis of the paraspinal muscles, alligator sign, a radiological finding of the posterior opening between the cervical spine C1 and C2, seemed to result from the shortening of the cervical semispinal muscle due to its degeneration. This sign may, however, disappear as the whole paraspinal muscles including the semispinal muscles are affected. The RV seen in RSS seems to be a secondary, nonspecific structure related to the muscle degeneration. On the other hand, the above findings, namely the atrophy of SCM, restrictive ventilatory failure, and RV, have not been reported in Emery-Dreifuss muscular dystrophy (EDMD) so far. Accordingly, those findings and the absence of cardiac conduction abnormality are valuable for differential diagnosis of RSS from EDMD.

Bilateral vocal cord abductor paralysis (VCAP) is frequently associated with multiple system atrophy (MSA) and the early clinical manifestation of VCAP is nocturnal inspiratory stridor simulating heavy snoring observed in patients with obstructive sleep apnea syndrome. We examined six MSA patients with nocturnal stridor and four disease controls including sleep apnea syndrome. Vocal cord movements were analyzed by laryngofiberscopy during both wakefulness and sleep induced by intravenous administration of diazepam. The results were as follows: First, the stenotic portion in the upper airway tract was the larynx (the vocal cords) in MSA patients with stridor, while the soft palate or the pharynx in the disease controls. Second, in the MSA patients, while awake-laryngofiberscopy showed abduction restriction suggestive of VCAP in only one of the six patients, sleep-laryngofiberscopy showed obvious paradoxical movement of the vocal cord in all the rests, where the vocal cords abducted in expiration and adducted in inspiration. In addition, there were two patterns in the inspiratory vocal cord position during sleep: one pattern where vocal glottis was still opening at the posterior one-third area and the other pattern where vocal glottis was almost completely closed through total length of the cords. Tracheostomy should be considered in the latter stage of VCAP.

To investigate the possibility of local antigen presentation within the peripheral nerve in amyotrophic lateral sclerosis (ALS), cryostat sections of 83 peripheral nerve biopsies were stained for the demonstration of HLA-DR using a monoclonal antibody. Forty samples showed increased expression of HLA-DR in endoneurium. The phenotypic characteristics of the HLA-DR positive cells are chiefly Schwann cells, using S-100 protein as a marker. We did not detect any co-expression between HLA-DR and NF (axons) and HLA-DR and myelin marker. We also detected co-expression between HLA-DR and NGFr in a majority of HLA-DR positive cells. Inflammatory cells were infrequent, being detected only in 11 cases, predominantly around epineurial blood vessels. Motor and sensory nerve biopsies performed simultaneously showed higher expression of HLA-DR in motor nerves in 2 out of 4 patients. The significance of these findings is not clear. The presence of endoneurial cells expressing HLA-DR suggests that an autoimmune mechanism may be involved in ALS having Schwann as the main target. Para investigar a possibilidade de comprometimento auto imune no nervo periférico de pacientes com esclerose lateral amiotrófica (ELA) 83 biópsias do nervo periférico de 79 pacientes (51 sexo masculino, 28 sexo feminino) com média de idade de 62 anos (variação de 19 a 82) foram congeladas e coradas para demonstração de HLA-DR usando anticorpo monoclonal. Quarenta amostras (48%) mostraram expressão nitidamente aumentada de HLA-DR na região endoneural. Usando proteína S-100 como marcador, demonstramos que HLA-DR se expressava principalmente nas células de Schwann. Não encontramos co-expressão com HLA-DR usando anticorpos antineurofilamento ou antimielina, mas detectamos co-expressão de HLA-DR e anti-receptor de fator de crescimento nervoso na maioria das células HLA-DR positivas. Células inflamatórias foram encontradas ocasionalmente, sendo detectadas em somente 11 casos, predominantemente ao redor de vasos sanguíneos epineurais. Biópsias de nervo sensitivo e motor feitas simultaneamente mostraram maior expressão de HLA-DR em nervos motores de 2 dos 4 pacientes. A significância desses achados ainda não é clara. A presença de células endoneurais expressando HLA-DR sugere que mecanismos auto imunes podem estar envolvidos na ELA tendo a célula de Schwann como um dos principais alvos.

The authors analyzed rhythmical involuntary movements at rest, which appeared as complications in 12 (sporadic 11, hereditary 1) out of a total of 139 cases (sporadic 99, hereditary 40) of olivo-ponto-cerebellar atrophy. These movements tended to be seen in patients with sporadic OPCA of longer illness duration and at more advanced stages. They were distributed over the face, neck and extremities. Palatal myoclonus was observed in only one case. The movements were exacerbated by maintenance of a fixed posture, motion and mental stress, and stopped during sleep. In some cases, clonazepam, trihexyphenidyl or 1-Dopa was effective. In the surface electromyogram, rhythmical grouped discharges of 2-4 Hz were recorded only on agonist muscles or on both agonist and antagonist muscles synchronously, which is characteristic of skeletal myoclonus. However, pathological study of 3 cases with involuntary movements revealed marked putaminal degenerations as compared with 3 uncomplicated cases. This suggests that these rhythmical movements might be related to parkinsonian tremor.

We have reported a 50-year-old woman with HTLV-I associated myelopathy (HAM) who had bilateral abductor vocal cord paralysis. The symptoms and signs were slowly progressive spastic paraplegia, dysuria, inspiratory stridor, and snoring during sleep. She had no hoarseness. Titers of anti-HTLV-I antibody were elevated in both the serum and cerebrospinal fluid. FEV1.0% on the spirogram was reduced to 66%. The fiberscopic examination demonstrated the abductor limitation of the vocal cords during the inspiratory phase. During induced sleep after the intravenous administration of thiopental sodium, this abductor paralysis was worsened, producing a high pitched inspiratory stridor. The adduction was not disturbed at all. Needle electromyogram of the posterior crico-arytenoid muscle which is a sole abductor muscle revealed the high amplitude up to approximately 1.0 mV (normal less than 0.8 mV) with poor interference pattern, indicating neurogenic changes. After 2 months course of prednisolone (60 mg/alternative day), FEV1.0% was recovered to be 92% with the improvement of the gait disturbance, which suggests the abductor vocal cord paralysis is related to HAM. The abductor vocal cord paralysis in HAM would require a careful follow-up observation to protect the respiratory failure in the advanced stage.

In order to elucidate the clinical features and the prognosis for life in the patients with multiple system atrophy (MSA) presenting with vocal cord paralysis (VCP), we studied the correlation between VCP and other neurological findings including cerebellar, pyramidal, extrapyramidal and autonomic nervous signs. Subjects were 48 MSA patients: 23 with VCP and age- and illness duration-matched 25 without VCP. MSA in this paper comprised clinically Shy-Drager syndrome, olivopontocerebellar atrophy, and striatonigral degeneration. MSA patients with VCP had in general more severe neurological findings, compared with those without VCP. Urinary incontinence developed in the relatively early stage of illness and preceded VCP in all patients. VCP developed not only in far-advanced stage but at any time in the course of illness. As to swallowing function when a diagnosis of VCP was established, about half of the patients with VCP needed nasogastric tube feeding and the remaining half tolerated oral feeding. VCP correlated strongly with urinary incontinence but not always with the severity of orthostatic hypotension or extrapyramidal tract sign such as parkinsonism. Five of the eight patients without tracheostomy came to sudden death. The mean duration from making a diagnosis of VCP to death was 1.1 years. In contrast, nine of the 11 patients with tracheostomy were alive and the survival periods after tracheostomy reached a maximum, five years. These facts suggest that the prognosis for life in the patients with VCP depends in part upon whether tracheostomy was carried out or not.(ABSTRACT TRUNCATED AT 250 WORDS)

The clinical and pathological findings in a 58-year-old Japanese man suffering from type III Machado-Joseph disease are reported. The patient became affected at the age of 50 years and presented cerebellar ataxia, progressive external ophthalmoplegia and muscular atrophy, although extrapyramidal signs were never detected throughout the whole course of his disease. His mother, sister and son presented progressive ataxia in the third or fourth decade. The mode of inheritance is considered to be autosomal dominant. Pathological examination revealed severe involvement of the dentato-rubral, ponto-cerebellar and subthalamopallidal systems, spinocerebellar tracts and Clarke's column, cranial motor nuclei including the oculomotor systems and anterior horn cells. The involvement of the substantia nigra was relatively mild, and the nerve cells in the inferior olivary nucleus were well preserved. The distal portion of peripheral nerves was severely damaged. Although the striking feature of Machado-Joseph disease is a considerable variability in the individual clinical expression, there have not been many autopsied cases of this disease and efforts to clarify the clinico-pathological correlation in each phenotype have scarcely been made. Relatively mild changes in the substantia nigra and severe involvement of the peripheral nervous system, as in our case, may be the pathological hallmarks of the type III disorder.