Objective: This study aims to identify metabolites with altered levels of expression in patients with early and progressive stages of Alzheimer's disease (AD).Methods: All participants of the study underwent genetic screening and were diagnosed using both neuropsychological assessment and amyloid imaging before metabolome analysis. According to these assessments, the patients were classified as normal (n = 15), with mild cognitive impairment (n = 10), and with AD (n = 15).Results: Using a targeted metabolomic approach, we found that plasma levels of C3, C5, and C5‐DC acylcarnitines, arginine, phenylalanine, creatinine, symmetric dimethylarginine (SDMA) and phosphatidylcholine ae C38:2 were significantly altered in patients with early and progressive stages of AD. We created a predictive model based on the decision tree that included three main parameters: age, arginine and C5 plasma concentrations. The model distinguished AD patients from other participants with 60% sensitivity and 86.7% specificity. For healthy controls, the sensitivity was 85.7% and specificity was 61.5%. Multivariate ROC analysis to develop a decision tree showed that our model reached moderate diagnostic power in differentiating between older adults who are cognitively normal (AUC = 0.77) and those with AD (AUC = 0.72).Interpretation: The plasma levels of arginine and valeryl carnitine, together with subject age, are promising as biomarkers for the diagnosis of AD in older adults.

Varicella-zoster virus (VZV) infection can cause chickenpox and herpes zoster. It sometimes involves cranial nerves, and rarely, it can involve multiple cranial nerves. We aimed to study clinical presentations of cranial nerve involvement in herpes zoster infection. We included patients who had the diagnosis of herpes zoster infection and cranial nerve involvement. The diagnosis was confirmed by typical vesicles and a rash. We excluded patients who had cranial neuralgias or neuropathies but without typical skin lesions (zoster sine herpete or post-herpetic neuralgia). We included 330 patients (mean age, 55.0 ± 17.0 years) who had herpes zoster with cranial nerve involvement, including 155 men and 175 women. Most frequently involved cranial nerves were the trigeminal nerve (57.9%), facial nerve (52.1%), and vestibulocochlear nerve (20.0%). Other involved cranial nerves included the glossopharyngeal nerve (0.9%), vagus nerve (0.9%), oculomotor nerve, trochlear nerve, and abducens nerve (each 0.3%, respectively). One hundred and seventy patients (51.5%) had only sensory symptoms/signs; in contrast, 160 patients (48.5%) had both sensory and motor symptoms/signs. Of those 160 patients, sensory preceded motor symptoms/signs in 64 patients (40.0%), sensory and motor symptoms/signs occurred simultaneously in 38 patients (23.8%), and motor preceded sensory symptoms/signs in 20 patients (12.5%). At one month after herpes zoster infection, vesicles and rash disappeared in 92.6% of patients; meanwhile facial palsy showed a significant improvement in 81.4% of patients (p < 0.05). Cranial motor neuropathies are not infrequent in herpes zoster infections. Multiple cranial nerve involvement frequently occurred in Ramsay Hunt syndrome. We found a significantly increased seasonal occurrence of cranial nerve zoster in spring rather than summer. Cranial motor nerves were affected while the hosts sometimes had a compromised immune system.

Background: Acute intermittent porphyria (AIP) is an inherited disorder of heme biosynthesis, the clinical manifestations of which are incompletely understood. In this report, we describe 12 cases of AIP, focusing on the neurological manifestations. Methods: Twelve patients were diagnosed with AIP on the basis of characteristic clinical findings, erythrocyte porphobilinogen deaminase (PBGD) activity, and molecular genetics. Central and peripheral nervous system manifestations were noted, and electrophysiological and radiological studies performed. Potential precipitating factors were recorded. Results: Eleven PBGD gene mutations were identified in 12 patients. Nine patients experienced neurological symptoms involving the central nervous system (consciousness disturbance, n = 8; convulsion/seizure, n = 4; behavior change, n = 1), while 7 patients experienced peripheral neuropathies (motor paresis, n = 7; impairment of bulbar or respiratory function, n = 4). The electrophysiological and electroencephalographic findings were consistent with the neurological symptoms of AIP. Urinary PBG and δ-aminolevulinic acid levels were elevated in all patients. PBGD enzyme activity levels were below normal in all patients. Eight patients had documented exposure to porphyrogenic agents. Conclusions: Our detailed description of a relatively large number of cases of AIP may help clinicians to recognize this often difficult-to-diagnose disorder.

The disease course and early signs specific to ATTR Ala97Ser, the most common endemic mutation in Taiwan, have not been well described. Since new medications can slow down the rate of disease progression, the early diagnosis of this heterogeneous and fatal disease becomes critical. We retrospectively reviewed the characteristics of genetically confirmed ATTR Ala97Ser patients at a tertiary referral medical center. Eight patients from 7 different families were enrolled (61.7 ± 5.5 years). Gastrointestinal symptoms, dyspnea or chest tightness, rather than sensory symptoms, were the initial symptoms in two patients (2/7 = 29%). Body weight loss (3/7 = 43%), muscle wasting (4/7 = 57%), or dysphagia (3/7 = 43%) were the consecutive symptoms. Orthostatic symptoms including orthostatic hypotension (7/7 = 100%), dizziness (6/7 = 86%) and syncope (5/7 = 71%) tended to develop in the late phase of the disease. Autonomic dysfunction was conspicuous. Cardiographic findings included a combination of ventricular wall thickening and pericardial effusion (7/7 = 100%), a granular sparkling appearance of the ventricular myocardium (4/7 = 57%), or conduction abnormalities (5/7 = 71%). This study broadens the recognition of the initial signs and symptoms, including cardiographic findings and longitudinal manifestations in Taiwanese individuals with ATTR Ala97Ser mutation. These manifestations should prompt doctors to perform further studies and make an early diagnosis.