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We report the first case of early-onset Parkinson's disease (EOP) with the PTEN-induced kinase 1 (PINK1) gene deletion in 62 years old Japanese female. The symptoms were started with unstable gait at the age 38. Parkinsonian symptoms became apparent in 45 years old. L-Dopa was markedly effective on her parkinsonian symptoms. However, equinovarus foot induced by L-Dopa intake appeared three months prior to the admission. On admission, she presented with mild cognitive impairment, severe depression, marked retropulsion, resting tremor in the left upper limb and mild hyperreflexia in the four limbs. Rigidity was not present. Mutational analysis revealed homozygous deletion from exon 6 to 8 in the PINK1 gene. An ethnic diversity in PINK1 mutation is suggested.

A 49-year-old woman with seronegative myasthenia gravis (SNMG) was admitted to our hospital with severe respiratory failure, proximal muscle weakness and bulbar palsy. Permanent tracheostomy and continuous mechanical ventilation were performed. At a previous hospital, she was diagnosed as SNMG on the basis of the positive waning during 3 Hz repetitive stimulation of the ulnar nerve, although no acetylcholine receptor antibodies (Ab) were detected by serological examination. Before admission to our hospital, she was treated with corticosteroids, intravenous immunoglobulin and tryptophan column immuno-adsorption therapy without clinical improvement. At our hospital, serological examination detected muscle-specific receptor tyrosine kinase (MuSK) Ab and plasma exchange was performed as treatment. Plasma exchange and subsequent immunomodulating therapy with corticosteroids and tacrolimus showed a dramatic clinical improvement with a marked decline of MuSK Ab level in the serum. These results suggested that plasma exchange should be considered as first choice to treat patients with refractory MuSK Ab-positive MG.

A patient with Facial diplegia and paresthesias, a rare regional variant of Guillain-Barré syndrome (GBS), is described. A 37-year-old woman developed paresthesias in the distal limbs and subsequently bifacial weakness. She had had a preceding episode of laryngitis. Neurological examination showed severe facial diplegia with loss of taste sensation on the tip of the tongue. Limb muscle power was preserved. Deep tendon reflexes were generally absent. She complained of paresthesias in the distal limbs, but sensory examination was normal. Cerebrospinal fluid showed albuminocytological dissociation. Electrophysiological studies revealed severe facial nerve involvements and demyelinative findings in her limbs. Intravenous immunoglobulin rapidly improved the abnormal sensation in her limbs. Although facial diplegia gradually lessened after the therapy, mild residual weakness was noted 6 months after the neurological onset. To diagnose facial diplegia and paresthesias, it is important to clarify the findings common to typical GBS such as the antecedent illness, acute and monophasic course, distal paresthesias, areflexia, cerebrospinal fluid albuminocytological dissociation, and demyelinative conduction abnormalities in the limbs.

We described a patient with ataxic Guillain-Barré syndrome who subsequently developed facial diplegia. A 38-year-old man developed ataxia, distal limb paresthesias, mild dysphagia, urinary retention and orthostatic hypotension a week after an episode of laryngitis. He had high titers of serum anti-GQ1b, anti-GD1b, anti-GM1b, anti-GT1a, and anti-GD1a IgG antibodies during the acute phase. Although the initial symptoms markedly improved by intravenous immunoglobulin therapy, asymmetric facial diplegia subsequently occurred and remained longer than ataxia. Similar course of facial nerve palsy has been reported in patients with Fisher syndrome. Common pathophysiological mechanism may function in the development of delayed facial diplegia in Fisher syndrome and ataxic Guillain-Barre syndrome.

A 57-year-old woman developed muscular stiffness and painful cramps, which were relieved by administration of dantrolene sodium. Her serum level of antibodies to glutamic acid decarboxylase (GAD) was markedly elevated and continuous muscular activities were observed on resting surface EMG. These features were compatible with those in stiff-person syndrome (SPS). She was found to have thymoma on CT scan. Immediately after thymomectomy, which was histologically diagnosed as a benign hyperplasia, she developed head retraction reflex-like movements evoked by sensory stimulation to the face, which were followed by severe bulbar symptoms with dysphagia and respiratory arrest. Postoperative myasthenia gravis was excluded clinically. While somatosensory evoked EMG on splenius muscle initially showed biphasic responses with latency of 15 msec and 55 msec, respectively after oral angle non-painful electric stimulation, the late potential phase disappeared after the patient recovered from bulbar symptoms. This suggests that head retraction reflex-like movements of this patient reflected the attenuation of inhibitory potentials from the brainstem.