BACKGROUND: Chorea-acanthocytosis (ChAc) is a rare hereditary autosomal recessive neurodegenerative disorder caused by pathogenic variants of the Vacuolar Protein Sorting 13 homolog A (VPS13A) gene. The variant spectrum of VPS13A has not been completely elucidated. This study reports two novel heterozygous VPS13A pathogenic variants in ChAc that expand the variant spectrum of VPS13A.
METHODS: We described a case of a 29-year-old man with typical clinical manifestations of ChAc, including chorea, orofacial lingual dyskinesia, vocal tics, elevated serum biochemical indicators, increased acanthocytes in peripheral blood, and caudate nucleus atrophy. Next-generation sequencing revealed two heterozygous variants of VPS13A: a nonsense variant (NM_033305.2: c.8215G > T, p. Glu2739Ter) and a deletion variant in the exons 25-31.
CONCLUSIONS: The identified nonsense variant gives rise to premature translation termination, while the deletion variant is expected to cause a significant in-frame deletion of amino acid residues in the encoded protein. Both variants are considered to be pathogenic and result in loss-of-function proteins. These findings have implications for the genetic counseling of patients with VPS13A variants.

Neurological complications are frequently mentioned in the published reports regarding the coronavirus disease 2019 (COVID-19). Especially encephalopathy draws attention as the leading symptom or complication of COVID-19 in some reports. This article discussed a 3-year-old patient with bilateral lentiform and caudate nuclei involvement on brain imaging, who presented with mental status changes and acute muscular weakness, possibly due to COVID-19. To the best of our knowledge, this case is the first one showing pathological signal enhancement and edema in bilateral lentiform and caudate nuclei associated with COVID-19.

Clinically, the recurrent artery of Heubner (RAH) aneurysm is extremely rare, commonly presents with subarachnoid hemorrhage (SAH).
A 73-year-old man with a known moyamoya disease who presented as caudate hemorrhage attributable to an incidental flow aneurysm distal on the right RAH, which was managed conservatively after an unsuccessful endovascular attempt. Unfortunately, the patient died five weeks after  hospital discharge because of re-rupture of the aneurysm. To the best of our knowledge, the RAH aneurysm manifesting as caudate hemorrhage without SAH has not previously been reported.
This case highlights that the RAH aneurysm masquerading as caudate hemorrhage without SAH is exceedingly rare but can be encountered, representing a diagnostic and therapeutic challenge, and should be considered in the differential diagnosis. Moreover, early identifying and then eliminating such vascular anomaly if possible is of importance to prevent fatal hemorrhage.

Anorexia nervosa (AN) is a serious eating disorder characterized by self-starvation and extreme weight loss. It has the highest mortality rate among all psychiatric disorders. Recent research indicates that malnutrition in AN patients induces various kinds of functional brain damage, but the pathophysiology of AN remains unclear. We report here the neuropathological findings of a 31-year-old Japanese woman. At age 24, she had a fear of gaining weight and reduced her dietary intake; she had extremely low body weight associated with overeating then self-induced vomiting. She was clinically diagnosed as having AN and was admitted to a psychiatric hospital with severe depression and suicidal thoughts. At age 31, she died despite intensive physical care and psychotherapy. Neuropathological examination revealed increased capillary blood vessels and slight fibrillary gliosis in the mammillary bodies, with similarities to Wernicke encephalopathy. The brainstem exhibited the characteristic features of central pontine myelinolysis, characterized by a sharply demarcated region of myelin pallor and relative sparing of axons. Senile changes, including neurofibrillary tangles/senile plaques, were not significant. Severe fibrillary gliosis was prominent around periventricular regions, including the caudate nucleus and nucleus accumbens, which are associated with cognition, emotion, and emotional behaviors via the dopaminergic pathways. These findings indicate that prolonged malnutrition in AN patients may induce brain damage, leading to dysfunction of the reward-related dopaminergic pathways. Furthermore, they represent the first pathological evidence that dysfunction of the cortico-limbic-striatal circuitry is involved in the pathophysiology of psychiatric symptoms in AN patients.

UNASSIGNED: Primary central nervous lymphoma is an aggressive disease without evidence of systemic spread with an annual incidence of 7 cases per 1,000,000 people in the United States.
UNASSIGNED: A 68-year-old gentleman of Malay ethnicity presented with left sided weakness associated with reduced sensation for one month. The patient was healthy and denied any constitutional symptoms, joint pains, rash or seizures. There was no recent trauma. Physical examination revealed left upper and lower limb motor grade power of 3/5 with upper motor neurone weakness of the left facial nerve. He had brisk reflexes and an upgoing extensor plantar response. Brain imaging (Magnetic Resonance Imaging) showed two lesions: one occupying the right head of the caudate nucleus and the other seen at the right side of the body of the corpus callosum. Histomorphology and immunohistochemistry confirmed Diffuse Large B-Cell Lymphoma (DLBCL) of non-germinal center type. He was treated with De Angelis protocol which involves chemoradiotherapy consisting of high dose methotrexate and whole brain radiotherapy (WBRT), followed by high dose cytarabine. Brain imaging post chemoradiation showed complete remission.
UNASSIGNED: Prompt detection with appropriate therapeutic protocol could significantly minimise the permanent neurological deficits in patients with this rare and challenging lymphoid malignancy.

BACKGROUND: Canavan disease is a genetic neurodegenerative leukodystrophy that results in the spongy degeneration of the white matter. Its key clinical features in the infantile form are developmental delay, visual problems and macrocephaly. Congenital and juvenile forms have also been described.
UNASSIGNED: We report on a 13-year-old boy who is a high school student in a public school. He was diagnosed with juvenile Canavan disease, presenting with intentional tremor as the only clinical finding.
RESULTS: Magnetic resonance imaging revealed mainly the involvement of the caudate nucleus and pons extending to the mesencephalon and also the putamen and the thalamus, with no apparent signal increase in the cerebral white matter. A homozygous p.Gly274Arg (c.820A>G) missense mutation was identified.
CONCLUSIONS: Juvenile Canavan disease with mainly pons involvement has not been published before. Pons, caudate nucleus and basal ganglia involvement without any white matter being involved could be expected in juvenile Canavan disease as a rare form of the disease.

Repetitive Transcranial Magnetic Stimulation (rTMS) shows the potential to modulate local brain activity, thus resulting in a modulatory action on neurocircuitries implicated in the pathophysiology of Gambling Disorder (GD). We report the case of a GD patient treated with two weeks of high frequency (15 Hz) rTMS over the dorsolateral prefrontal cortex (DLPFC). At baseline and after rTMS treatment the patient underwent a SPECT examination with (123)I-FP-CIT tracer, to test changes in dopamine transporter (DAT) availability. The patient was followed up for six months, to explore safety and clinical correlates of a weekly high frequency rTMS maintenance treatment. Over the six-month follow-up the patient reported no episodes of gambling relapse. Also, the patient did not report craving for gambling or gambling-related symptoms. After two weeks of left DLPFC-rTMS treatment, we found a decrease in DAT availability in striatal regions, that represents a putative neurobiological substrate of dopaminergic pathways modulation. This study suggests that high frequency DLPFC-rTMS deserves further investigations in larger samples, using controlled study designs, to assess its real potential as a treatment for GD.

BACKGROUND: A 76-year-old female patient was diagnosed with an aneurysmal subarachnoid hemorrhage following rupture of a right posterior communicating artery aneurysm.
METHODS: She was treated surgically with clipping of the aneurysmal neck. Six months after onset, when starting rehabilitation at our hospital, she showed no spontaneous movement or speech. DIAGNOSES:: aneurysmal subarachnoid hemorrhage following rupture of a right posterior communicating artery aneurysm.
METHODS: During 2 months\' rehabilitation, her AM did not improve significantly. As there was no apparent change, she underwent a ventriculo-peritoneal shunt operation for hydrocephalus 8 months after her stroke. After the surgery, she remained in the AM state, but participated in a comprehensive rehabilitative management program similar to that before shunt operation. During 1 month\'s intensive rehabilitation, her AM gradually improved. At 9 months after onset, she became able to perform some daily activities by herself including eating, washing, and dressing. In addition, she could speak with some fluency.
RESULTS: On 6-month DTT, the neural connectivity of the caudate nucleus (CN) to the medial prefrontal cortex (PFC, Broadmann area [BA]: 10 and 12) and orbito-frontal cortex (BA 11 and 13) was low in both hemispheres. However, the neural connectivity of the CN to the medial PFC increased on both sides on 9-month DTT. The integrity of the arcuate fasciculus (AF) was preserved in both hemispheres on both 6- and 9-month DTTs.
CONCLUSIONS: Recovery of AM and injured PCTs was observed in a stroke patient.

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Findings from longitudinal follow-up studies in patients with idiopathic rapid-eye-movement sleep behaviour disorder (IRBD) have shown that most patients will eventually develop the synucleinopathies Parkinson\'s disease, dementia with Lewy bodies, or multiple system atrophy. Neuroinflammation in the form of microglial activation is present in synucleinopathies and is a potential therapeutic target to halt or delay the neurodegenerative process. We aimed to investigate whether neuroinflammation is present in patients with IRBD and its possible relation to nigrostriatal dopamine function.
In this prospective, case-control, PET study, patients with IRBD and no clinical evidence of parkinsonism and cognitive impairment were recruited from tertiary sleep centres in Spain (Barcelona) and Denmark (Aarhus). We included patients with polysomnography-confirmed IRBD according to established criteria. Healthy controls were recruited through newspaper advertisements. Controls had no motor or cognitive complaints, a normal neurological examination, and a mean group age similar to the IRBD group. In patients with IRBD, we assessed microglial activation in the substantia nigra, putamen, and caudate with 11C-PK11195 PET, and dopaminergic axon terminal function in the putamen and caudate with 18F-DOPA PET. Controls underwent either 11C-PK11195 PET or 18F-DOPA PET. We compared 18F-DOPA uptake and 11C-PK11195 binding potential between groups with an unpaired, two-tailed Student\'s t test.
Between March 23, 2015, and Oct 19, 2016, we recruited 20 consecutive patients with IRBD and 19 healthy controls. 11C-PK11195 binding was increased on the left side of the substantia nigra in patients with IRBD compared with controls (Student\'s t test, mean difference 0·153 [95% CI 0·055 to 0·250], p=0·003), but not on the right side (0·121 [-0·007 to 0·250], p=0·064). 11C-PK11195 binding was not significantly increased in the putamen and caudate of patients with IRBD. 18F-DOPA uptake was reduced in IRBD in the left putamen (-0·0032 [-0·0044 to -0·0021], p<0·0001) and right putamen (-0·0032 [-0·0044 to -0·0020], p<0·0001), but not in the caudate.
In patients with IRBD, increased microglial activation was detected by PET in the substantia nigra along with reduced dopaminergic function in the putamen. Further studies, including more participants than were in this study and longitudinal follow-up, are needed to support our findings and evaluate whether the presence of activated microglia in patients with IRBD represents a marker of short-term conversion to a clinically defined synucleinopathy in the near future.
Danish Council for Independent Research, Instituto de Salud Carlos III (Spain).