Family adaptation in families of individuals with Down syndrome from 12 countries.

Our current understanding of adaptation in families of individuals with Down syndrome (DS) is based primarily on findings from studies focused on participants from a single country. Guided by the Resiliency Model of Family Stress, Adjustment, and Adaptation, the purpose of this cross-country investigation, which is part of a larger, mixed methods study, was twofold: (1) to compare family adaptation in 12 countries, and (2) to examine the relationships between family variables and family adaptation. The focus of this study is data collected in the 12 countries where at least 30 parents completed the survey. Descriptive statistics were generated, and mean family adaptation was modeled in terms of each predictor independently, controlling for an effect on covariates. A parsimonious composite model for mean family adaptation was adaptively generated. While there were cross-country differences, standardized family adaptation mean scores fell within the average range for all 12 countries. Key components of the guiding framework (i.e., family demands, family appraisal, family resources, and family problem-solving communication) were important predictors of family adaptation. More cross-country studies, as well as longitudinal studies, are needed to fully understand how culture and social determinants of health influence family adaptation in families of individuals with DS.

[Schwannoma of Intercostal Nerve Resulting in Significant Pain Relief Following Excision:Report of a Case].

An 80-year-old male underwent chest computed tomography (CT) due to complaints of right-sided chest pain. A chest wall tumor was identified in the right eighth intercostal space, corresponding to the location of his pain. The patient was subsequently referred to our department for further evaluation and treatment. Utilizing single-port thoracoscopic surgery, the tumor was successfully excised. Intraoperatively, the tumor was found beneath the parietal pleura, was contiguous with to the intercostal nerve. Histopathological analysis confirmed the diagnosis of schwannoma originating from the intercostal nerve. The right-sided chest pain was reduced after operation significantly. No recurrence or relapse of symptoms was observed during follow-up. Although schwannoma of the chest wall in asymptomatic in many cases, in this case, localized pain corresponding to the tumor site was evident. This emphasizes the importance of considering schwannoma in the differential diagnosis of chest pain.

Effects of Parental Involvement on Glycemic Control in Adolescents With Type 1 Diabetes Mellitus: A Scoping Review.

Type 1 diabetes mellitus (T1DM) is typically diagnosed in pediatric patients. Transitioning from supported management in childhood to self-management in adolescence is an important step. Parental psychosocial influence is a possible factor in adolescents' disease control. This review summarized the effects of parental involvement on glycemic control in adolescents with T1DM by focusing on hemoglobin A1c (HgbAIc). A scoping review per the Guidance for Systematic Scoping Reviews was conducted with the following inclusion criteria: (a) studies in English, (b) focused on adolescents with T1DM, (c) outcomes included HgbAIc, and (d) focused on parental influence of children with T1DM. Of 476 articles, 14 were included. The study outcomes were classified based on direct or indirect influence. "Parental support for adherence" and "parental conflict" significantly affected HgbAIc control. This study provides current evidence on parental influence on glycemic control in adolescents.

Measurement of Family Management in Families of Individuals With Down Syndrome: A Cross-Cultural Investigation.

Down syndrome (DS) is the most common genetic cause of intellectual disability worldwide. The purpose of this analysis was to determine the internal consistency reliability of eight language versions of the Family Management Measure (FaMM) and compare family management of DS across cultures. A total of 2,740 parents of individuals with DS from 11 countries completed the FaMM. The analysis provided evidence of internal consistency reliability exceeding .70 for four of six FaMM scales for the entire sample. Across countries, there was a pattern of positive family management. Cross-cultural comparisons revealed parents from Brazil, Spain, and the United States had the most positive family management and respondents from Ireland, Italy, Japan, and Korea had the least positive. The rankings were mixed for the four remaining countries. These findings provide evidence of overall strong internal consistency reliability of the FaMM. More cross-cultural research is needed to understand how social determinants of health influence family management in families of individuals with DS.

Therapeutic advances in BIG3-PHB2 inhibition targeting the crosstalk between estrogen and growth factors in breast cancer.

Our previous studies demonstrated that specific inhibition of the BIG3-PHB2 complex, which is a critical modulator in estrogen (E2) signaling, using ERAP, a dominant negative peptide inhibitor, leads to suppression of E2-dependent estrogen receptor (ER) alpha activation through the reactivation of the tumor suppressive activity of PHB2. Here, we report that ERAP has significant suppressive effects against synergistic activation caused by the crosstalk between E2 and growth factors associated with intrinsic or acquired resistance to anti-estrogen tamoxifen in breast cancer cells. Intrinsic PHB2 released from BIG3 by ERAP effectively disrupted each interaction of membrane-associated ERα and insulin-like growth factor 1 receptor beta (IGF-1Rß), EGFR, PI3K or human epidermal growth factor 2 (HER2) in the presence of E2 and the growth factors IGF or EGF, followed by inhibited the activation of IGF-1Rß, EGFR or HER2, and reduced Akt, MAPK and ERα phosphorylation levels, resulting in significant suppression of proliferation of ERα-positive breast cancer cells in vitro and in vivo. More importantly, combined treatment with ERAP and tamoxifen led to a synergistic suppression of signaling that was activated by crosstalk between E2 and growth factors or HER2 amplification. Taken together, our findings suggest that the specific inhibition of BIG3-PHB2 is a novel potential therapeutic approach for the treatment of tamoxifen-resistant breast cancers activated by the crosstalk between E2 and growth factor signaling, especially in premenopausal women.

Discrepancies between couples' perceptions of family functioning in child-rearing Japanese families.

This study examined discrepancies in couples' family functioning scores on the Japanese version of the Feetham Family Functioning Survey, which evaluates both internal and external family functioning, and the relationship of family demographic characteristics to such discrepancies. Participants were 313 husband and wife pairs with child(ren) attending nursery school. The discrepancies were significantly related to: the presence of a family member living with a disease/illness; the number of children; mean age of the children; and annual household income. A possible factor that may explain the discrepancies was question design, that is, use of "you" or "your," and the inclusion of questions concerning intrafamily issues. The findings indicated that family-related perceptions by each individual family member may differ. Nurses should therefore be aware that information from just one family member will not necessarily represent the family's actual situation.

Autosomal-recessive complicated spastic paraplegia with a novel lysosomal trafficking regulator gene mutation.

BACKGROUND: Autosomal-recessive hereditary spastic paraplegias (AR-HSP) consist of a genetically diverse group of neurodegenerative diseases characterised by pyramidal tracts dysfunction. The causative genes for many types of AR-HSP remain elusive. We tried to identify the gene mutation for AR-HSP with cerebellar ataxia and neuropathy. METHODS: This study included two patients in a Japanese family with their parents who are first cousins. Neurological examination and gene analysis were conducted in the two patients and two normal family members. We undertook genome-wide linkage analysis employing single nucleotide polymorphism arrays using the two patients' DNAs and exome sequencing using one patient's sample. RESULTS: We detected a homozygous missense mutation (c.4189T>G, p.F1397V) in the lysosomal trafficking regulator (LYST) gene, which is described as the causative gene for Chédiak-Higashi syndrome (CHS). CHS is a rare autosomal-recessive syndrome characterised by hypopigmentation, severe immune deficiency, a bleeding tendency and progressive neurological dysfunction. This mutation was co-segregated with the disease in the family and was located at well-conserved amino acid. This LYST mutation was not found in 200 Japanese control DNAs. Microscopic observation of peripheral blood in the two patients disclosed large peroxidase-positive granules in both patients' granulocytes, although they had no symptoms of immune deficiency or bleeding tendency. CONCLUSIONS: We diagnosed these patients as having adult CHS presenting spastic paraplegia with cerebellar ataxia and neuropathy. The clinical spectrum of CHS is broader than previously recognised. Adult CHS must be considered in the differential diagnosis of AR-HSP.

A homozygous mutation of C12orf65 causes spastic paraplegia with optic atrophy and neuropathy (SPG55).

BACKGROUND: Autosomal recessive hereditary spastic paraplegias (AR-HSP) constitute a heterogeneous group of neurodegenerative diseases involving pyramidal tracts dysfunction. The genes responsible for many types of AR-HSPs remain unknown. We attempted to identify the gene responsible for AR-HSP with optic atrophy and neuropathy. METHODS: The present study involved two patients in a consanguineous Japanese family. Neurologic examination and DNA analysis were performed for both patients, and a skin biopsy for one. We performed genome-wide linkage analysis involving single nucleotide polymorphism arrays, copy-number variation analysis, and exome sequencing. To clarify the mitochondrial functional alteration resulting from the identified mutation, we performed immunoblot analysis, mitochondrial protein synthesis assaying, blue native polyacrylamide gel electrophoresis (BN-PAGE) analysis, and respiratory enzyme activity assaying of cultured fibroblasts of the patient and a control. RESULTS: We identified a homozygous nonsense mutation (c.394C>T, p.R132X) in C12orf65 in the two patients in this family. This C12orf65 mutation was not found in 74 Japanese AR-HSP index patients without any mutations in previously known HSP genes. This mutation resulted in marked reduction of mitochondrial protein synthesis, followed by functional and structural defects in respiratory complexes I and IV. CONCLUSIONS: This novel nonsense mutation in C12orf65 could cause AR-HSP with optic atrophy and neuropathy, resulting in a premature stop codon. The truncated C12orf65 protein must lead to a defect in mitochondrial protein synthesis and a reduction in the respiratory complex enzyme activity. Thus, dysfunction of mitochondrial translation could be one of the pathogenic mechanisms underlying HSPs.

Aspects of emotional labor of public health nurses engaged in interpersonal support.

AIM: Clarifying the emotional labor of public health nurses while providing interpersonal support. DESIGN: Qualitative descriptive study conducted using content analysis to clarify the aspect of emotional labor of PHNs regarding interpersonal support. METHODS: Individual semi-structured interviews were conducted with 28 public health nurses employed by seven city governments in Japan. The data items obtained were categorized using deductive content analysis. RESULTS: When attempting interpersonal support, PHNs showed the following aspects of emotional labor: (1) negative emotions towards residents and resident-focused emotions; (2) emotional rules based on duty performance, emotional rules based on fairness, emotional rules based on intimacy; (3) adaptive emotional regulation, maladaptive emotional regulations and (4) emotional expressions based on friendliness, emotional expressions based on calmness. CONCLUSION: PHNs used adaptive emotional regulation in some cases and sometimes resorted to maladaptive forms. A system of support should be established to ensure the smooth and effective provision of interpersonal support.

Development and Validity of the Japanese Version of the Questionnaire on Factors That Influence Family Engagement in Acute Care Settings.

There exists an international consensus on the importance of family-centered care (FCC) in intensive care settings and the evaluation of collaboration between nurses and families; however, FCC is currently practiced blindly in Japan. In this study, we developed a Japanese version of the questionnaire, Factors that Influence Family Engagement (QFIFE-J) and examined its reliability and validity. A web-based survey was conducted with 250 nurses working in the intensive care unit (ICU). Exploratory and validatory factor analyses were used to ascertain factor validity. Criterion-related validity was tested using correlation analysis with the ICU Nurses' Family Assistance Practice Scale. Internal consistency and reproducibility were verified for reliability. Following exploratory and confirmatory factor analyses, a 15-item measure emerged comprising four factors: "ICU environment", "nurses' attitudes", "nurses' workflow", and "patient acuity". Confirmatory factor analyses showed a generally good fit. Cronbach's α for the overall scale was 0.78, indicating acceptable internal consistency. The intraclass coefficient for test-retest reliability was 0.80. It was found that the QFIFE-J was reliable and valid and may help determine the factors that promote or inhibit FCC. Additionally, this study has also clarified the current status and family support related issues in ICUs in Japan.

A novel adult case of juvenile-onset Alexander disease: complete remission of neurological symptoms for over 12 years, despite insidiously progressive cervicomedullary atrophy.

We present here a 25-year-old woman with genetically confirmed (p.R276L mutation in the GFAP gene) juvenile-onset AxD. Episodic vomiting appeared at age nine, causing anorexia and insufficient growth. Brain MRI at age 11 showed a small nodular lesion with contrast enhancement in the left dorsal portion of the cervicomedullary junction. Her episodic vomiting improved spontaneously at age 13, and she became neurologically asymptomatic. The enhancement of the lesion disappeared simultaneously, although the plaque remained. Longitudinal MRI observations, however, revealed insidiously progressive cervicomedullary atrophy without a signal change. This case broadens our knowledge of AxD: (1) molecular analysis of the GFAP gene is warranted in patients with MRI evidence of tumor-like lesions in the brainstem, particularly if they present with isolated episodic vomiting and/or anorexia; (2) the disease can be self-remitting for at least 12 years; (3) cervicomedullary atrophy, characteristic of the adult form, can be insidiously progressive without a signal change before the clinical symptoms appear.

Development and testing of the Survey of Family Environment (SFE): a novel instrument to measure family functioning and needs for family support.

BACKGROUND AND PURPOSE: Hohashi's Concentric Sphere Family Environment Model (CSFEM; Hohashi & Honda, 2011) is a newly proposed family nursing theory for holistically understanding the family environment that acts on family well-being. The purpose of this article is to develop and psychometrically test the Japanese version of the Survey of Family Environment (SFE-J), grounded in the CSFEM, for measuring family's perceived family functioning and family's perceived needs for family support. METHODS: The SFE-J is a 30-item self-administered instrument that assesses five domains (suprasystem, macrosystem, microsystem, family internal environment system, and chronosystem) and has been subjected to rigorous reliability and validity investigations among paired partners in child-rearing families (N of family = 1,990). RESULTS: Internal consistency reliability was high as measured by Cronbach's alpha coefficients. Temporal stability over a 2-week interval was supported by high (substantial or perfect) and significant intraclass correlation coefficients. The total score for the SFE-J was significantly correlated with the Japanese version of the Feetham Family Functioning Survey (FFFS-J), indicating an acceptable concurrent validity. Construct validity was supported by a confirmatory factor analysis that evaluated the five-factor structure to measure the concept of CSFEM. Results also demonstrate that the SFE-J family functioning scores show no significant differences between paired partners. CONCLUSIONS: The SFE-J is a reliable and valid instrument to assess not only intrafamily functioning but also interfamily functioning and, by identifying items/domains with high requirements for family support, serves to facilitate the providing of appropriate support to families.

Development and Validation of the COVID-19-Related Stigma Scale for Healthcare Workers (CSS-HCWs).

Stigma among healthcare workers during the coronavirus disease 2019 (COVID-19) pandemic is an issue that requires immediate attention, as it may otherwise lead to the collapse of healthcare systems. In this study, we developed the COVID-19-related stigma scale for healthcare workers (CSS-HCWs) and assessed its reliability and validity. Data were collected online from 500 participants, including physicians and nurses involved in COVID-19 care. The first item of the draft scale was developed based on a literature review and qualitative study. The draft scale consisted of 24 items, which were rated on a six-point Likert scale. Descriptive statistics were calculated and the data distribution was analyzed. To assess the scale's validity and reliability, structural validity was evaluated through an exploratory factor analysis. Criterion-related validity was examined through a correlation analysis using the E16-COVID19-S, a COVID-19 scale developed for physicians in Egypt. Reliability was evaluated by examining the scale's stability and internal consistency. The findings revealed that the stigma scale was a valid and reliable instrument. The final scale consisted of 18 items across three domains: personal stigma, concerns of disclosure and others, and family stigma. In conclusion, the scale is a valid and reliable instrument that can measure COVID-19-related stigma among healthcare workers.

Genome-wide association study of epirubicin-induced leukopenia in Japanese patients.

OBJECTIVES: Despite long-term clinical experience with epirubicin, unpredictable severe adverse reactions remain an important determinant to limit the drug use. To identify a genetic factor(s) affecting the risk of epirubicin-induced leukopenia/neutropenia, we performed a genome-wide association study. METHODS: We studied 270 patients consisting of 67 patients with grade 3 or 4 leukopenia/neutropenia, and 203 patients showing no toxicity (patients with grade 1 or 2 were excluded from the study) for genome-wide association study. We further examined the single nucleotide polymorphisms (SNPs) showing P values of less than 0.0001 using an additional set of 48 patients with grade 3/4 leukopenia/neutropenia. RESULTS: The combined analysis indicated that rs2916733 in microcephalin 1 [combined PFisher min=2.27×10, odds ratio (OR)=2.74 with 95% confidence interval (CI)=1.96-3.83; the nonrisk genotype as reference] was significantly associated with epirubicin-induced leukopenia/neutropenia. A subgroup analysis of patients with only breast cancer showed a similar trend of association for the marker SNP rs2916733 (combined PFisher min=6.76×10, OR=2.80 with 95% CI=1.86-4.21). We subsequently performed haplotype analysis and found that a haplotype constructed from rs2916733 and rs1031309, which was in linkage disequilibrium with rs2916733 (r=0.64), showed stronger association (P=2.20×10, OR=2.88 with 95% CI=2.05-4.03) than a single landmark SNP (rs2916733; P=2.27×10, OR=2.74 with 95% CI=1.96-3.83), suggesting that causative variant(s) that could influence the susceptibility of epirubicin-induced adverse drug reactions (ADRs) might exist in this haplotype. CONCLUSION: Our findings show that genetic variants in the microcephalin 1 locus are suggestively associated with the risk of epirubicin-induced ADRs and might be applicable in development of diagnostic system for predicting the risk of the ADRs, leading to better prognosis and quality of life for patients with cancer. However, these results should be considered preliminary until replicated in adequately larger powered and controlled samples.

The time since last menstrual period is important as a clinical predictor for non-steroidal aromatase inhibitor-related arthralgia.

BACKGROUND: The clinical predictors of aromatase inhibitor-related arthralgia (AIA), a drug-related adverse reaction of aromatase inhibitors (AIs), remain unclear. METHODS: AIA was prospectively surveyed every 4 months in 328 postmenopausal breast cancer patients administered a non-steroidal AI (anastrozole). Various clinicopathological parameters were recorded and analyzed (chi-square test, Fisher's exact test and logistic regression analysis). RESULTS: The mean observation period was 39.9 months. AIA manifested in 114 patients (34.8%), with peaks of onset at 4 (33.7%) and 8 months (11.4%) after starting AI administration. Some cases manifested even after 13 months. AIA tended to occur in younger patients (incidences of 46.3%, 37.4% and 28.0% for ages of < 55, 55-65 and > 65 years, respectively (p = 0.063)) and decreased significantly with the age at menarche (53.3%, 35.3% and 15.4% for < 12, 12-15 and > 15 years, respectively (p = 0.036)). The incidences were 45.1%, 46.3 and 25.1% for the time since the last menstrual period (LMP) < 5 years, 5-10 years and > 10 years, being significantly lower at > 10 years (p < 0.001). In logistic regression analysis, the AIA incidence was significantly lower in the time since LMP > 10-year group versus the < 5-year group (odds ratio 0.44, p = 0.002), but the age at menarche showed no association. AIA manifested significantly earlier (≤ 6 months) as the time since LMP became shorter (< 5 years). CONCLUSION: AIA tends to manifest early after starting AI, but some cases show delayed onset. The incidence was significantly lower in patients with a duration of > 10 years since LMP. When the time since LMP was short, the onset of AIA was significantly earlier after starting AI administration.

Family functioning of child-rearing Japanese families on family-accompanied work assignments in Hong Kong.

Although the number of employees on overseas assignments accompanied by their families has increased steadily, little is known about the effects of this experience on family functioning. Japanese families on family-accompanied assignments living in Hong Kong were compared with families living in Japan (consisting of 135 and 248 paired partners, respectively). Applying an ecological framework, family functioning was examined using the Feetham Family Functioning Survey-Japanese (FFFS-J). Japanese wives living in Hong Kong rated family functioning lower, particularly in the area of "relationship between family and family members." Between paired marital partners living in Hong Kong, the level of satisfaction in the area of "relationship between family and society" was significantly lower for wives than for husbands. This study provides application of the family ecological framework in families in a multicultural environment and identifies potential areas for family assessment and intervention that may of interest to health care professionals who care for families living away from their home countries.

Development and psychometric testing of a family concordance competency scale for families with children having chronic illnesses.

AIM: This study aimed to develop a Family Concordance Competency Scale for Family System Units (FCCS-Fa) for families with children having chronic disease, and to evaluate its reliability and validity. METHODS: FCCS-Fa was developed by taking the following steps: (a) drafting based on the elements comprising concordance between healthcare professionals and families with patients suffering from chronic illness; (b) evaluation of face and content validity by an expert panel; and (c) re-examination of face and content validity by semi-structured interviews with 16 families. Criterion-related validity was evaluated using the existing scale and construct validity was evaluated using exploratory factor analysis. Analysis of each FCCS-Fa evaluation item, internal consistency, and the 2-week test-retest reliability was also conducted. An anonymous self-reported questionnaire survey was conducted, targeting families with chronically ill children who were outpatients at three hospitals. RESULTS: A total of 196 subjects were analyzed. As results of FCCS-Fa item analysis and exploratory factor analysis, a scale structure comprised of 17 evaluation items and three factors were adopted. In addition, a significant correlation with several existing scales was identified and the criterion-related validity was also confirmed. The Cronbach's α coefficient for the overall scale was .927, the intraclass correlation coefficient applying the retest method was .905, and internal consistency and test-retest reliability were both confirmed. CONCLUSIONS: We developed FCCS-Fa with reliability and validity. Assessing family concordance competency using this scale and supporting families to achieve family concordance can lead to self-management by families.

Intensive care nurse-family engagement from a global perspective: A qualitative multi-site exploration.

BACKGROUND: Critical illness is distressing for families, and often results in negative effects on family health that influence a family's ability to support their critically ill family member. Although recent attention has been directed at improving care and outcomes for families of critically ill patients, the manner in which nurses engage with families is not fully understood. OBJECTIVES: To describe nurses' perceptions and practices of family engagement in adult intensive care units from a global perspective. DESIGN: A qualitative-descriptive multi-site design using content analysis. SETTINGS: The study was conducted in 26 intensive care units of 12 urban, metropolitan, academic medical centers in ten countries, spanning five continents. PARTICIPANTS: A total of 65 registered nurses (77% women, age of M = 39.5, SD = 11.4 years) participated. Most held intensive care certification (72%) and had worked on average 10 (SD = 9.6) years in the ICU. METHODS: Semi-structured, individual interviews (M = 38.4 min, SD = 12.0) were held with ICU nurses at the hospital (94%) or their home using an interview guide. Qualitative interview data were analysed using inductive content analysis. RESULTS: We found that nurse-family engagement was an ebb and flow of relational power that needed to be carefully negotiated and balanced, with nurses holding and often exerting more power than families. Constant fluctuations in nurses' practices of engagement occurred in day-to-day practice from shift-to-shift and from nurse-to-nurse. Family engagement was dependent on individual nurses' attitudes and perceptions of family, the patient's condition, and workload. Lastly, family engagement was shaped by the ICU context, with team culture, collaborative relationships, unit structures and organizational resources either enabling or limiting nurses' ability to engage with families. CONCLUSIONS: This global study provides an in-depth understanding of the way nurses engage with families in ICU and reflects many different cultures and health systems. We found that nurse-family engagement was marked by a shifting, yet often unequal power distribution in the nurse-family relationship, inconsistent nurse engagement practices, both of which resulted in variable family engagement in intensive care. Our research contributes a detailed description of engagement as practiced in the everyday delivery of health care. A more concentrated team effort, based on a shared culture and defined framework of family care is needed to ensure that families of critically ill persons are fully engaged in all aspects of intensive care.

Adult-onset Alexander disease with typical "tadpole" brainstem atrophy and unusual bilateral basal ganglia involvement: a case report and review of the literature.

BACKGROUND: Alexander disease (ALX) is a rare neurological disorder characterized by white matter degeneration and cytoplasmic inclusions in astrocytes called Rosenthal fibers, labeled by antibodies against glial fibrillary acidic protein (GFAP). Three subtypes are distinguished according to age at onset: infantile (under age 2), juvenile (age 2 to 12) and adult (over age 12). Following the identification of heterozygous mutations in GFAP that cause this disease, cases of adult-onset ALX have been increasingly reported. CASE PRESENTATION: We present a 60-year-old Japanese man with an unremarkable past and no family history of ALX. After head trauma in a traffic accident at the age of 46, his character changed, and dementia and dysarthria developed, but he remained independent. Spastic paresis and dysphagia were observed at age 57 and 59, respectively, and worsened progressively. Neurological examination at the age of 60 revealed dementia, pseudobulbar palsy, left-side predominant spastic tetraparesis, axial rigidity, bradykinesia and gaze-evoked nystagmus. Brain MRI showed tadpole-like atrophy of the brainstem, caused by marked atrophy of the medulla oblongata, cervical spinal cord and midbrain tegmentum, with an intact pontine base. Analysis of the GFAP gene revealed a heterozygous missense mutation, c.827G>T, p.R276L, which was already shown to be pathogenic in a case of pathologically proven hereditary adult-onset ALX. CONCLUSION: The typical tadpole-like appearance of the brainstem is strongly suggestive of adult-onset ALX, and should lead to a genetic investigation of the GFAP gene. The unusual feature of this patient is the symmetrical involvement of the basal ganglia, which is rarely observed in the adult form of the disease. More patients must be examined to confirm, clinically and neuroradiologically, extrapyramidal involvement of the basal ganglia in adult-onset ALX.