[An Autopsy Case of Amiotrophic Lateral Sclerosis Characterized by Upper Motor Neuron Degeneration and Progressive Pseudobulbar Palsy].

This is a case report of autopsy findings for a male Japanese patient who presented with progressive gait disturbance and dysarthria. Neurological examination at the age of 61 years revealed pseudobulbar palsy and upper motor neuron disorder. The patient appeared unaware of his illness. Electrophysiological examination showed lower neuron damage. The patient was diagnosed with amyotrophic lateral sclerosis characterized by lower motor neuron damage. He died of pneumonia 2 years and 3 months after diagnosis. Neuropathological examination demonstrated severe degeneration of the upper neurons and mild degeneration of the lower neurons. Immunohistological examination indicated transactivation-responsive DNA-binding protein-43-positive pathology in the frontal and temporal lobes, amygdala, corpus striatum, and spinal cord. We believe the neuropathological findings correlate well with the clinical features. Furthermore, we also discuss the lesions involved in the patient's dementia. (Received March 28, 2017; Accepted September 19, 2018; Published November 1, 2018).

The handkerchief guide: a simple and practical method to improve ataxic gait in cerebellar subjects.

OBJECTIVE: Ataxic gait can be remarkably improved by a simple method called the "handkerchief guide" involving the patient and caregiver holding opposite ends of a handkerchief and walking together. Our objective was to assess the effect of the handkerchief guide on gait in patients with cerebellar ataxia. METHODS: Gait analysis was carried out on seven patients with degenerative cerebellar disease (DCD), seven patients with unilateral cerebellar vascular disease (CVD), and seven healthy control (HC) subjects. All subjects performed two walking tasks: free walking (FW) and handkerchief-guided walking (HGW) on a 10 m pathway. In the HGW condition, each subject walked with the caregiver while maintaining slight tension on the handkerchief. The HCs and patients with DCD held the handkerchief with their right hand, while the patients with unilateral limb ataxia due to CVD grasped it with their affected and unaffected hands in different trials. We measured 10 gait parameters. RESULTS: The HGW attenuated body-sway, lengthened step, and increased gait velocity in patients with cerebellar ataxia. In DCD, the HGW significantly improved seven parameters. In CVD, HGW with the affected hand improved five parameters, and HGW with the unaffected hand improved seven parameters. CONCLUSIONS: The HGW stabilized upright posture in patients with cerebellar ataxia during level-ground walking, probably by enabling subconscious postural adjustments to minimize changes in the arm and hand position relative to trunk, and in arm configuration. This led to improvement of gait performance. The handkerchief guide may be useful for walk training in patients with cerebellar ataxia.

Writing errors and anosognosia in amyotrophic lateral sclerosis with dementia.

Amyotrophic lateral sclerosis (ALS) with dementia (ALS-D) is known to exhibit characteristics of frontotemporal dementia. However, in clinical situations, it is often difficult to evaluate their cognitive functions because of impaired voluntary speech and physical disabilities. In order to identify characteristic and diagnostic cognitive symptoms of relatively advanced ALS-D patients, we retrospectively reviewed the clinical features of seven cases of clinically definitive ALS who had dementia, impaired voluntary speech, and physical disability. Their medical records showed that six out of seven patients made writing errors, and all of the patients demonstrated anosognosia. The writing errors consisted of paragraphia such as substitution, omission, or syntactic errors with individual differences in error types. Dissociation between kana and kanji were also observed. Anosognosia was evaluated by a self-rating scale with which the patients and the medical staff evaluated the patient's physical ability; the results indicated a large discrepancy between the evaluation by the patients and the medical staff. We emphasize that aphasic writing errors have been underestimated, particularly in ALS-D patients with impaired voluntary speech. We also reported that anosognosia was the most important and quantifiable symptom in ALS-D. The relationship between writing errors and anosognosia should be investigated further.

[Thyroid crisis and protein C deficiency in a case of superior sagittal sinus thrombosis].

We report the case of a 28-year-old woman who presented simultaneously with superior sagittal sinus thrombosis and thyroid crisis, and was subsequently found to have protein C deficiency. February 3, 2003, she admitted complaining of abdominal pain. The diagnosis of appendicitis was made, and she was operated on under lumbar anaesthesia. Day 7, she developed acute headache and distal weakness of the left lower limb. On examination she was alert, with a temperature of 38 degrees C, a sinus tachycardia of 124/min and blood pressure 164/84 mmHg. Neurological examination revealed neck stiffness and left hemiparesis, predominantly in her lower limb. Gadlinium-enhanced brain MRI revealed extensive superior sagittal sinus thrombosis. CT scan demonstrated infarction in the right frontal cortex, and subarachnoid hemorrhage adjacent to the right cerebellar tentorium. The patient was treated with a free radical scavenger edarabon, and glycerin. No anticoagulant therapy was instituted. Over the next 24 hours, her condition worsened. She became comatose, as well as developing a generalized tonic-clonic seizure. Day 12, laboratory examinations revealed an undetectable TSH-level CTSH (thyroid stimulating hormone) <0.005 mcIU/ml), with a level of free thyroxin 7.77 ng/dl (0.9-1.7), free triiodothyronin 29.6 pg/ml (2.3-4.3), and positive anti-TSH receptor antibodies determined subsequently. Coagulation factor VIII activity was 155% (normal range 60-150). Protein C deficiency (antigen 59%, activity 49%) was also present, suggesting a congenital type I heterozygous deficiency. A diagnosis of thyroid crisis on the basis of Graves' disease was made. The patient remained comatose and died on Day 16, with renal failure. The patient had protein C deficiency, a well-established risk factor for cerebral venous thrombosis (CVT). However, additional risk factors are required in most cases to precipitate CVT. In our case, this trigger was most likely thyroid crisis, suggesting that thyrotoxicosis, probably through hypercoagulability, may be a predisposing factor for the development of CVT.

[Spontaneous intracranial internal carotid artery dissection: 6 case reports and a review of 39 cases in the literature].

Angiographic, CT and MR findings, precipitating factors, and clinical features of spontaneous intracranial internal carotid artery dissection, in particular the terminal segment of the ICA, are described. Patients who had a possible posttraumatic dissection were excluded from the study. Six patients, 3 men and 3 women, mean age 25.8 years, were studied. Spontaneous ICA dissection accounted for 0.63 percent of 797 patients with ischemic stroke and 14 percent of 36 patients with ischemic stroke who were 45 years of age or younger. Headache was absent in two but clearly preceded the onset of cerebral stroke in four patients, the interval ranging from less than a few minutes to 6 hours. Focal cerebral ischemic symptoms were present in all six patients. Four presented with loss of consciousness. Only one patient had a subarachnoid hemorrhage (SAH). Dissection occurred at the level of the carotid knee portion just beyond the origin of the ophthalmic artery in all the patients. Moreover, there was additional involvement of the ipsilateral MCA in four and ipsilateral ACA in three. Angiographic features of the six ICAs that involved dissection were a smooth tapered luminal narrowing or occlusion in two patients, irregular narrowing in three, a pearl and string sign in one, and retention of the contrast media in three. Follow up angiography or magnetic resonance (MR) angiography was performed on all the patients. The interval from the initial to follow-up angiography was one to six months. Stenosis persisted in one artery but was resolved in the other five arteries. MR angiography showed segmental narrowing of the right supraclinoid internal carotid artery in one patient. MR angiographic source images showed a narrow lumen in the right intracavernous portion of the ICA and a crescent-shaped filling defect. Follow-up MR imaging and MR angiography, 6 months after the initial study, showed amelioration of the luminal narrowing and no filling defect. The filling defect is considered to be due to a thrombosed pseudolumen. Treatment consisted of anticoagulation therapy for two patients, hyperbaric therapy for two, and supportive measures only for two. Follow-up ranged from ten months to three years. Of these six patients with completed stroke, four had full recovery, and two some residual neurological deficits. Trivial precipitating events were reported by five of the patients (playing tennis, running, bicycling, and drinking alcohol). Migraine headaches were cited by one patient, use of oral contraceptives by another, and use of tobacco by a third. All the patients were normotensive. In none of them was family history contributory, nor was any underlying arteriopathy identified. Of the six personal cases and the reviewed 25 cases during the last 15 years, represented on the Glasgow Outcome Scale, good recovery was achieved in 61%. The outcomes for these patients was better than previously reported. Spontaneous intracranial ICA dissection may cause ischemic stroke, with or without subarachnoid hemorrhage, especially in young patients.

[A patient with Guillain-Barré syndrome and recurrent episodes of ST elevation and left ventricular hypokinesis in the anterior wall].

A-65-year old woman who developed total ophthalmoplegia, areflexia in all her limbs and ataxia after upper respiratory tract infection was admitted to our hospital on the second day of illness. On day 3, she developed severe tetraparesis and respiratory failure which required mechanical ventilation, and Guillain-Barré syndrome (GBS) was diagnosed. On day 4, bilateral ptosis, facial diplegia, and neck muscle weakness appeared, and her all limbs were flaccid and immobile. An electrophysiological study suggested axonal damage. Marked blood pressure fluctuation also appeared on day 4. On day 5, an electrocardiogram showed a ST-segment elevation in leads V1 through V4 and the echocardiography showed anterior hypokinesia of the left ventricle. Her serum creatine kinase was normal. Left ventricular dysfunction and ST-segment elevation were normalized within hours, but a transient ST-segment elevation re-occurred on day 6. An electrocardiogram on day 13, showed inverted T waves in diffuse leads, which inversion continued. ST-segment elevation and hypokinesia in this patient were restricted to the left anterior descending branch, therefore, coronary spasm of that branch was considered the possible mechanism. In contrast, inverted T wave was due to either catecholamine cardiotoxicity or diffuse cardiac ischemia. Abnormalities of electrocardiogram were presumably due to cardiovascular autonomic dysfunction of GBS.

Loss of urinary voiding sensation due to herpes zoster.

A case of sacral herpes zoster infection in a 56-year-old man with the complication of loss of urinary voiding sensation is presented. He had typical herpes zoster eruption on the left S2 dermatome, hypalgesia of the S1-S4 dermatomes, and absence of urinary voiding sensation. There was no other urinary symptom at the first medical examination. Urinary complications associated with herpes zoster are uncommon, but two types, acute cystitis and acute retention, have been recognized. No cases of loss of urinary voiding sensation due to herpes zoster have been reported. In this case, hypalgesia of the sacral dermatomes was mild compared to the marked loss of urethral sensation. This inconsistency is explained by the hypothesis that the number of urethral fibers is very small as compared to that of cutaneous fibers, therefore, urethral sensation would be more severely disturbed than cutaneous sensation.

[A case of parkinsonian syndrome caused by normal pressure hydrocephalus accompanied by the cauda equina neurinoma].

A case of parkinsonian syndrome caused by normal pressure hydrocephalus (NPH) accompanied by cauda equina neurinoma is reported. A 69-year-old woman presented with typical symptoms of parkinsonism, including akinesia, resting and postual tremor, and cog-wheel rigidity. CT scan of the brain revealed dilatation of ventricles, but she did not present dementia and urinary incontinence that are common symptoms in NPH. Her cerebrospinal fluid (CSF) pressure was normal, and her protein level was high at 2,970 mg/dl. An electroencephalogram (EEG) showed diffuse slow waves. An IMP-SPECT images of the brain showed diffuse reduction of radioisotope uptake. Levodopa was not effective in treating her parkinsonism. Removal of the tumor caused dramatic improvement in her parkinsonism. Her CSF protein level was normalized and EEG and SPECT images were improved after the operation. However, ventricular size on brain CT showed no change. It was considered that the causal mechanism of NPH was due to high protein levels in the CSF. The parkinsonism in this case was caused by dysfunction of the circuits linking the cortex, basal ganglia, and thalamus associated with metabolic disorder due to periventricular ischemia. Typical parkinsonism caused by NPH associated with spinal cord tumor has not been reported. When we examine a patient with parkinsonian syndrome caused by NPH, we should check the CSF protein level. And if that level is high, the possibility of spinal cord tumor should be considered.