Movement disorders are symptomatic of neurological conditions associated with hypo- or hyperactive motor activities. Based on recent reports literatures, movement disorders are classified as follows: (1) akinetic-rigid movement disorders, (2) hyperkinetic movement disorders, (3) ataxic movement disorders, and (4) motor neuron disorders. In particular, this review focuses on the pathologic findings of akinetic-rigid movement disorders and hyperkinetic movement disorders. In the section on akinetic-rigid movement disorders, I introduce the neuropathologies of Parkinson’s disease, progressive supranuclear palsy (PSP), corticobasal degeneration (CBD) and multiple system atrophy (MSA). In those disorders, α-synuclein or microtubule associated protein tau (MAPT) have important roles in the mechanisms of disease process. In PSP, neurofibrillary tangles as well as tufted astrocytes are hallmarks of neuropathologic findings. CBD presents numerous coiled bodies and astrocytic plaques in the cerebral cortex and subcortical white matter. In both diseases, abnormal phosphorylated MAPT is composed of 4-repeat tau in neurons and glial cells. MSA is characterized by the presence of glial inclusions (glial cytoplasmic inclusions, GCIs) composed of α-synuclein. Recent studies have indicated that abnormal α-synuclein accumulation is also observed in the neuron. The neuropathologies of hyperkinetic movement disorders such as Huntington chorea, neuroacanthocytosis, Creutzfeldt-Jakob disease (CJD) and neuronal ceroid lipofuscinosis (NCL) are introduced in the subsequent section. In addition, the details of neuroserpinopathy and neuroferritinopathy are presented here. In those disorders, it is important to understand the genotype-phenotype correlation. Typical neuropathologic changes of Huntington chorea and neuroacanthocytosis are severe neuronal loss and gliosis in the caudate nucleus and putamen. CJD presents severe cortical atrophy in association with severe neuronal loss, gliosis and PrPsc deposits in the cerebral and cerebellar cortex. Kufs disease, one of the NCL, presents deposition of lipopigments in the neurons of cerebral cortex and cerebellum. Those lipopigments are composed of subunit c of mitochondrial ATP synthase. Neuroserpinopathy is characterized by the presence of numerous bodies composed of mutated neuroserpin in the neurons of the cerebrum and brainstem. Neuroferritinopathy presents abnormal accumulation of ferritin as intranuclear and intracytoplasmic bodies in glia and subsets of neurons in the central nervous system. Neuropathologic analysis sheds light on neurodegenerative movement disorders.

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Disorders affecting the neuromuscular junction (NMJ) consist of AChR­, MuSK­, double negative­ myasthenia gravis (MG), Lambert­Eaton syndrome (LEMS), Isaacs’ syndrome and Schwartz­Jampel syndrome and congenital myasthenic syndromes (CMS). Discussed were both clinical, therapeutic, pathological aspects and autoantibodies against nAChR, Musk and clustering AChR in myasthenia gravis of the most popular NMJ disease, autoantibodies aginst VGCC and Sox1 in LEMS associated with the small cell cancer (SCLEMS), antibodies against VGKC and the other new antigen in Isaacs’ syndrome, perlecan in Schwartz Jampel syndrome, and clinical and genetic features of CMS.

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A 74-year-old woman visited our hospital complaining of unsteadiness in walking and clumsiness of the right hand. She had suffered from hypertension but otherwise had no previous history. She showed mild rigidity and akinesia in the right upper and lower extremities. Parkinson’s disease at Hoehn and Yahr stage 1 was diagnosed but medication was not prescribed. At age 78 she again visited our hospital complaining of worsening of gait disturbance and frequent falls. This time her Parkinsonian symptoms had developed to Hoehn and Yahr stage 3.5. Treatment with Levodopa/DCI and L-threo DOPS was started. Eight months later, she was admitted to another hospital because of severe abdominal pain. The abdominal pain emerged every afternoon and subsided after administration of pentazocine not non-steroidal anti-inflammatory drugs. Physical and endoscopic examination of the upper and lower gastrointestinal tracts showed no abnormality. Thirty-eight days after admission she was transferred to our hospital. The abdominal pain emerged every afternoon around 4 pm without presentation of any physical signs in the abdomen. The pain was assumed to be due to non-motor off sensory symptom. Thus, we administered levodopa/DCI at 3 pm, which abolished the pain completely. Lowered threshold for pain perception induced by reduction of monoaminergic transmission in the central nervous system may have been associated with the abdominal pain of the present patient.

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Dystonia involving the tongue is a well-recognized feature of both primary and secondary tardive dystonia as well as oromandibular dystonia. However, primary focal lingual dystonia (PFLD) has rarely been described. We present the case of a patient with speech-induced PFLD. A 46-year-old woman was admitted to our hospital because of dysarthria owing to involuntary protrusion of her tongue. This movement occurred only when she attempted to talk and was suppressed when she chewed gum or bit chopsticks; we considered these activities to be sensory tricks. Involuntary movements in other body parts were not noted. The strengths of the facial and masseter muscles were normal. The sensory functions of the limb and face were normal. Further, the findings of laboratory examinations, including routine hematological, biochemical, and thyroid function studies were normal. Initially, the patient was treated with hydrochloric trihexyphenidyl; however she was intolerant to the treatment because of its anticholinergic side effects. Thereafter she was treated with a mouthpiece through which a sensory trick stimulus was applied. When she wore the mouthpiece, her dystonic tongue movement was fairly well controlled. Lingual dystonia is a relatively rare event and sometimes difficult to treat. Botulinum toxin is not commonly used to treat patients with lingual dystonia because of the risk of dyspnea and dysphagia. Several medications are used empirically but their effectiveness remains unknown. We highly recommend that such patients be treated with a mouthpiece through which a sensory trick stimulus is applied as this treatment does not have any adverse effect.

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We report the case of a 32-year-old woman presenting with dementia after diplopia and unsteadiness. She gradually developed dementia, psychiatric symptoms, ataxia, and weight loss after divergence palsy. Brain magnetic resonance imaging (MRI) revealed progressive brain atrophy and cortical hyperintensities on fluid attenuated IR (FLAIR) and diffusion-weighted imaging (DWI) within 2 years after symptom onset. Single photon emission computed tomography (SPECT) revealed loss of blood flow to the frontal and temporal lobes. Clinical course and examinations suggested prion disease, but electroencephalography revealed only slow waves. Prion protein gene analysis found codon 129 was Met/Met, and no genetic mutations were identified. Cerebrospinal fluid levels of tau and 14-3-3 protein were below cut-off values. Patients with slowly progressive diplopia, unsteadiness and dementia as in this case require long-term follow-up with MRI, including DWI.

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