Kondo T

Familial hemifacial spasm: report of cases and review of literature

We describe clinical characteristics of 10 patients (five families) with familial hemifacial spasm, with reviews of 13 patients hitherto reported in the literature. There is no clear difference in clinical manifestations between sporadic and familial hemifacial spasms. There is no definite inheritance pattern, but may be autosomal dominant with low penetrance. The ages of onset of familial hemifacial spasm are variable, but occasionally can occur at early years of life. There is a left-side predominance with respect to the affected side of cases with familial hemifacial spasm. Similar to sporadic hemifacial spasm, vascular decompression was effective, suggesting that vascular compression is involved in generating hemifacial spasm even in the familial cases. Familial hemifacial spasm may not be a rare disorder, but may possibly be overlooked. Clarifying the role of genetic susceptibility in pathophysiological mechanisms underlying hemifacial spasm is an important approach toward better understanding of the pathogenesis of cranial rhizopathies.

Chronic low-Ca/Mg high-Al diet induces neuronal loss.

To evaluate the causative role of environmental aluminum (Al) in the development of neurodegeneration in Kii‐amyotrophic lateral sclerosis (ALS), we examined how chronic exposure to a low‐Ca/Mg and high‐Al diet induced neuronal loss and tau‐related neuronal degeneration in experimental animals. Optical microscopic examination showed tau‐positive cells, atrophic neurons with darkly stained cytoplasms or swollen perikarya in the cerebrum, hippocampus and the brainstem of mice fed a low‐Ca/Mg high‐Al diet (Group 3). The neuronal loss was found in the frontal and parietal cortices of the mice and was not due to a classical apoptosis as detected by the terminal de ynucl otidyl transferase‐mediated dUTP‐digoxigenin nick end‐labeling (TUNEL) method. Neuronal degeneration and spheroid formation was also seen in the spinal cord of the Group 3 mice. The Morin fluorescence technique showed Al and Ca deposition in the cortical neurons and vessels in the basal ganglia of these mice. An electron microscopic examination showed intranuclear filamentous structures, intracytoplasmic vacuoles and/or darkly stained cytoplasm in the cortical neurons of Group 3 mice. These findings were seen in mice of the 11‐month‐experimental period and increased until the 25‐month‐experimental period. The present findings suggested that chronic exposure to a low‐Ca/Mg high Al condition induced an accumulation of hyperphosphorylated tau in the cortical neurons, swelling of the neuronal cytoplasm and loss in the cerebrum and spinal cord of mice. Environmental factors such as a low‐Ca/Mg high Al exposure might be one of the risk factors for the development of neuronal degeneration of ALS in the Kii Peninsula.

Bell's palsy-induced blepharospasm

Abstract We report two patients with blepharospasm that appeared during the recovery phase of Bells palsy. It is well known that hemifacial spasm occasionally appears after Bells palsy; however, blepharospasm associated with Bells palsy has been rarely reported so far. Blepharospasm appeared within a month after the onset of Bells palsy, suggesting that a certain causal relationship may be present between Bells palsy and blepharospasm. We speculate that corneal irritation caused by lagophthalmos contributes to the induction of blepharospasm. Another speculation is that abnormal afferent input from the paralyzed side contributes to the abnormal sensitization of the blink reflex, thereby facilitating the induction of abnormal facial motor outputs such as blepharospasm.

Initial therapy for Parkinson's disease: levodopa vs. dopamine receptor agonists

Abstract. Levodopa therapy is essential for patients in the advanced stages of Parkinsons disease. However, at early stages, DA agonist therapy has similar efficacy in the treatment of parkinsonism and a lower incidence of motor complications compared to levodopa therapy several years after the initiation of the therapy. The main factors causing motor complications have been speculated to be a severe reduction of dopaminergic nerve terminals because of disease progression, and a pulsatile stimulation of DA receptors using a drug with a short plasma half-life. DA agonists have longer plasma half-lifes than levodopa; therefore, they are expected to have a favorable effect on motor complications. Moreover, two clinical reports confirmed the potential neuroprotection by DA agonists. Although the patients conditions should be considered in the selsction of a drug, DA agonist therapy is recommended as the initial therapy for Parkinsons disease.

FKBP12 immunoreactivity in the human spinal cord of motor neuron disease patients

We investigated the FKBP12 immunoreactivity in the spinal cord of neurological controls and motor neuron disease (MND) patients. In the neurological controls, the spinal neurons were markedly stained with antihuman FKBP12 (N‐19 and C‐19) antibodies. FKBP12 immunoreactivity was associated with lipofuscin in formalin‐fixed paraffin‐embedded samples. In an electron microscopic view, the 10‐nm colloidal gold particles labeled by the anti‐FKBP12 (N‐19) antibody were present on the lipofuscin of the spinal anterior horn neurons. In the MND cases, atrophic neurons with an abundance of lipofuscin granules in the anterior horns of the spinal cord were mildly stained with the anti‐FKBP12 (N‐19 and C‐19) antibodies. Normal‐appearing neurons, inclusion‐laden neurons and chromatolytic neurons of MND cases were weak or negatively stained with anti‐FKBP12 (N‐19) antibodies. These findings suggest that FKBP12 (N‐19) may decrease in the early stages of degeneration in MND. Complexes of FKBP12 and ligands were reported to have neuroprotective and/or neuroregenerative properties. It is speculated that the decrease in FKBP12 (N‐19) plays some causative role in the development of neurodegeneration in MND. Further investigation of FKBP12 and ligands may help elucidate the pathogenesis of MND.