Norinao Hanyu

Hemiballism with striatal hyperintensity on T1-weighted MRI in diabetic patients: A unique syndrome

We report 3 diabetic patients who developed hemiballism without involvement of the subthalamic nucleus. Each patient exhibited vigorous, flinging, ballistic involuntary movements in the extremities and slight facial grimacing involving one side of the body. Although diabetes was poorly controlled in all 3, each patient was nonketotic at the onset of hemiballism. Magnetic resonance imaging (MRI), in these patients showed abnormalities in the striatum contralateral to the hemiballism that were characterized by an increase in intensity on T1-weighted images and a slight decrease in intensity on T2-weighted images, and these changes persisted for more than 2 months. The striatal lesions are presumed to have developed following mild ischemia in the territory of the lateral striate branches of the middle cerebral artery. This combination of hemiballism and striatal lesions in diabetic patients may constitute a unique syndrome.

Degeneration and regeneration of ventral root motor fibers in amyotrophic lateral sclerosis: Morphometric studies of cervical ventral roots☆

Morphometric studies by histological and teased-fiber methods on myelinated fibers of the C6 and C8 ventral roots were made in cases of myotrophic lateral sclerosis (ALS) and in age-matched controls. In 11 controls myelinated fibers were divided into two groups: large and small fibers. The fiber density was calculated and the actual number of fibers was counted in both groups. The number of large fibers was significantly decreased in 14 of 17 cases with ALS, and correlated with the muscle strength of the ipsilateral upper limb as determined by manual muscle testing before death. The absolute number of small fibers of the C6 ventral root was increased in 3 of 5 cases of ALS. In these cases, there was a group of small myelinated fibers showing very thin myelin lamellae compared to axon circumference, and these were considered as regenerating myelinated fibers. On teased-fiber study, the frequency of fibers with axonal degeneration was 23.8% in ALS in contrast to 0.6% in controls (P less than 0.001). In addition, 5.5% of fibers showed segmental demyelination, and remyelination after segmental demyelination was found in 16.4% of fibers in ALS. These figures were also significantly larger (P less than 0.01) than controls (2.4% and 10.1%, respectively). These results suggest that the essential pathological change in the ventral spinal root in ALS is axonal degeneration of large myelinated fibers, and that Schwann cell involvement may also occur.

A novel frameshift mutation in the McLeod syndrome gene in a Japanese family.

We report a novel mutation in the XK gene (XK) in a Japanese patient with McLeod syndrome. A 50-year-old man showed progressive muscular atrophy, choreic movement, elevated level of serum creatinine kinase, and acanthocytosis. The expression level of all the Kell antigens in erythrocyte was decreased and molecular analysis revealed a single-base (T) deletion at the nucleotide position 1095 in XK. This deletion caused a frameshift in translation, leading to a premature stop codon at the amino acid position 408. We conclude this single-base deletion causes defective Kx protein, which is responsible for the McLeod phenotype in this patient.

Withdrawal of levodopa and other risk factors for malignant syndrome in Parkinson's disease

A symptom complex identical to neuroleptic malignant syndrome (MS) is known to develop in patients with idiopathic Parkinsons disease (PD) or other forms of parkinsonism on long-term treatment with anti-parkinsonian drugs. In order to clarify the risk factors for parkinsonian MS, the authors retrospectively reviewed charts of consecutive inpatients with PD in the neurological departments at the three hospitals and found 16 episodes of parkinsonian MS in 14 patients. A survey of health status preceding MS disclosed that deterioration of parkinsonian symptoms alone may induce MS, while association of major risk factors, i.e. rapid discontinuation of anti-parkinsonian drugs, dehydration or infection may precipitate or exacerbate MS. Cerebral vascular disorders, mechanical brain injury or physiological stress could be other risk factors leading to MS.

Muscular pseudohypertrophy in an adult case with centronuclear myopathy.

We describe a 40-year-old male case with centronuclear myopathy showing a unique clinical picture of generalized muscular pseudohypertrophy. CT scan, ultrasound imaging and histopathological studies of muscles revealed that muscle enlargement in this case might be caused by marked intrafascicular fatty infiltration. It is suggested that muscular pseudohypertrophy may occur in adult centronuclear myopathy cases with a long clinical course and that CT and ultrasound scans are very useful for the evaluation of diseased muscles.

Persistent hemiballism with striatal hyperintensity on T1-weighted MRI in a diabetic patient: a 6-year follow-up study.

The combination of hemiballism, hyperglycemia and hyperintensity of the striatum on T1-weighted MRI constitutes a unique syndrome. We report the follow-up of a patient with this disorder whose hemiballism was sustained for over 5 years. High density on CT of the right striatum turned into normodensity in 4 months, and hyperintensity on T1-weighted MRI and hypointensity on T2-weighted MRI of the lesion were resolved in 18 months. A decreased perfusion of the lesion by SPECT remained 37 months after onset. There was no volume change of the lesion during the course of the illness. The radiological features support the possible pathology of either or both petechial hemorrhage and astrocytosis with high protein concentration after ischemic insult. The hemiballism may result from selective damage of GABA/enkephalin-containing neurons in the striatum and can persist without the primary histological changes causing the striatal T1-hyperintensity in this disorder.

Muscle CT scan findings in McLeod syndrome and chorea-acanthocytosis

Computed tomography (CT) scans of lower leg muscles reveal a selective pattern of fat infiltration in the posterior compartment with spared gracilis, semitendinosus, and the lateral head of the gastrocnemius in both McLeod syndrome and chorea‐acanthocytosis, which are disorders characterized by the presence of circulating acanthocytes. The selectivity of affected muscles indicates that late onset and slowly progressive muscular atrophy in both diseases could be a consequence of primary myopathy. Asymmetrical muscle involvement may be seen during the process of degeneration only in McLeod syndrome, however, and may be helpful in distinguishing this disease from chorea‐acanthocytosis.

Relationship between cognitive impairments, event-related potentials, and motor disability scores in patients with Parkinson's disease: 2-year follow-up study

We studied event-related potentials and the cognitive state for 2 years in 29 patients with Parkinsons disease (PD). Of those patients, 11 were at stage II and 18 were at stage III at initial assessment, as measured on the Hoehn and Yahr scale. The peak latency of P300 in patients at stage III was significantly prolonged, as compared with that in age-matched normal controls or PD patients at stage II. There was no significant change in P300 latency among patients whose motor ability remained unchanged at stage II or stage III during follow-up period. The mean P300 latency prolonged significantly in patients whose motor ability worsened from stage III to stage IV. The cognitive state in the patients with PD was characterized by impairment in the categories of orientation, recall and constructional ability. The degree of impairment of these items increased as the motor disability increased. These results suggest that cognitive dysfunctions and abnormality of P300 latency increased as the motor disabilities progressed.

Characterization of a transthyretin-related amyloid fibril protein from cerebral amyloid angiopathy in type I familial amyloid polyneuropathy

Recently, it has been reported that transthyretin (TTR)-immunoreactive amyloid deposition with cerebral amyloid angiopathy in central nervous system is a common pathological finding in type I familial amyloid polyneuropathy (FAP). In the present study, we performed isolation and sequence analysis of TTR-related amyloid fibril protein from the meninges of a patient with type I FAP. Purified major amyloid fibril protein had a molecular weight of 15 kDa. Complete sequence analysis revealed that this amyloid fibril protein was a variant TTR with a single amino acid substitution of methionine for valine at position 30. This variant TTR is a previously unrecognized as cerebrovascular amyloid fibril protein. Furthermore, the patients with type I FAP are well known to have the variant TTR in the serum. These suggest that cerebrovascular amyloid fibril protein in type I FAP may derive from a serum precursor.

Recurrent steroid-responsive trismus and painful ophthalmoplegia

A 63-year-old woman experienced two episodes of trismus and painful ophthalmoplegia at an interval of six years. She suffered left visual loss, and enhanced CT scan and MR imaging revealed heterogeneous enlargement of the left extraocular muscles extending to the orbital apex. In addition, the left pterygopalatine fossa was filled with a mass isointense with muscle without evidence of surrounding tissue invasion; 67Ga scintigraphy showed high uptake in this lesion. Steroid administration dramatically resolved the trismus, and the mass in the orbit and extraorbit vanished completely. Orbital pseudotumor is characterized by self-limited, relapsing, steroid-responsive painful ophthalmoplegia, and this case could be a variant of this entity with inflammation extending into the extraorbital area.