Horner's syndrome (HS) occurs when there is interruption of the oculosympathetic pathway (OSP). This article reviews the anatomy of the OSP and clinical findings associated with lesions located at various positions along this pathway. The imaging findings of lesions associated with HS at various levels of the OSP, classified as ...

Signaling noncomprehension of the spoken messages of others was examined for youth with fragile X or Down syndrome in comparison with each other and nonverbal MA-matched typically developing children. A direction-following task was used in which some of the directions were inadequate. Both syndrome groups signaled noncomprehension less often than ...

Fragile X syndrome is the world's most common hereditary cause of intellectual disability in men and to a lesser extent in women. The disorder is caused by the silencing of a single gene on the X chromosome, the Fragile X Mental Retardation Gene-1. A substantial body of research across the ...

We present a girl with the fragile X premutation who obtained the premutation allele from donated sperm. Our patient has clinical characteristics of fragile X syndrome including emotional problems and neuropsychological difficulties presenting as learning disabilities. She is also at high risk for premature ovarian failure and low risk for ...

Epidural analgesia is a common procedure during labour. Neurological complications during pregnancy and labour in particular can indicate serious underlying pathology that may require urgent intervention to prevent permanent damage. The development of Horner's syndrome may, for instance indicate a variety of acute neurological conditions including carotid dissection. We describe ...

Fragile X syndrome is caused by the functional loss of the fragile X mental retardation 1 (FMR1) gene. Deletion of the FMR1 ortholog in Drosophila melanogaster (Fmr1) recapitulates many phenotypes associated with fragile X syndrome. We have discovered that Fmr1 mutant Drosophila die during development when reared on food containing ...

A one-year-old female English Cocker Spaniel dog with idiopathic Horner's Syndrome is described. The specific clinical signs in this specimen were miosis, ptosis, enophthalmos, and prolapsed nictitans for 2 days following sudden onset. According to history taking, ophthalmic, neurological, and radiological examination, the patient was diagnosed with idiopathic Horner's syndrome. ...

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder associated with a premutation trinucleotide repeat expansion in the fragile X mental retardation 1 gene. Symptoms include gait ataxia, action tremor, and cognitive impairment. The objectives of the study were to clarify the nature of the dysexecutive syndrome observed in FXTAS ...

Van Borsel, Dor, and Rondal (2007) examined the speech of seven boys and two young male adults with fragile X syndrome and considered whether their speech was comparable to that reported in the developmental stuttering literature. They listed five criteria which led them to conclude that the speech patterns of ...

PURPOSE OF REVIEW: To give an overview on topics of pupillary function selected according to their relevance in clinical neurology. Mainly publications of the last 3 years have been considered. RECENT FINDINGS: The discovery of photosensitive retinal ganglion cells not serving vision, but serving circadian rhythm and the pupil initiated ...

Metabotropic glutamate receptors (mGluRs) have been implicated in a diverse variety of neuronal functions. Studies reviewed here indicate that exaggerated signalling through mGluR5 can account for multiple cognitive and syndromic features of fragile X syndrome, the most common inherited form of mental retardation and autism. Since a reduction of mGluR5 ...

Fragile X syndrome is the most common cause of mental retardation in the male. Historically, fragile X premutation was considered to be phenotypically silent. In recent reports the premutation has been associated with premature ovarian failure and fragile X-associated tremor/ataxia syndrome. This case describes a 24-year-old woman who presented with ...

The present study investigated the dysfluencies in the speech of nine French speaking individuals with fragile X syndrome. Type, number, and loci of dysfluencies were analysed. The study confirms that dysfluencies are a common feature of the speech of individuals with fragile X syndrome but also indicates that the dysfluency ...

A 2-year-old boy exhibited congenital right Horner's sign and right finger, wrist, and elbow flexion arthrogryposis. He had dyspnea and feeding difficulty 12 hours after birth. Radiologic examination revealed a thoracoabdominal intestinal tube and mediastinal cystic lesion at the right side, with vertebral anomaly at the cervical level. Histopathologically, the ...

The present study focuses on math and related skills among 32 girls with fragile X (n = 14) or Turner (n = 18) syndrome during late elementary school. Performance in each syndrome group was assessed relative to Full Scale IQ-matched comparison groups of girls from the general population (n = ...

In this issue of Cell Stem Cell, Eiges et al. (2007) generate a human ES cell line from an embryo identified by preimplantation genetic diagnosis, and shed light on the molecular pathology of fragile X syndrome. The discovery that, upon differentiation, epigenetic modifications likely trigger silencing of the FMR1 gene ...

OBJECTIVES: To determine the carrier frequency of fragile X syndrome, and the rate of expansion from premutation (PM) carrier to full mutation (FM) fetus. METHODS: Results were analyzed on women with no family history of fragile X syndrome, or who were PM/FM carriers, who were tested between January 1994 and ...

We describe a case of Horner syndrome occurring secondary only to the high insertion of a chest tube after video-thoracoscopic apicectomy for spontaneous pneumothorax. Because all other causes could be ruled out, the Authors assume that the lesion to the sympathetic nerve fibres was caused by pressure exerted by the ...

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder with core features of action tremor and cerebellar gait ataxia. Frequent associated findings include parkinsonism, executive function deficits and dementia, neuropathy, and dysautonomia. Magnetic Resonance Imaging studies in FXTAS demonstrate increased T2 signal intensity in the middle cerebellar peduncles (MCP sign) ...

Peripheral neuropathy is common among patients with fragile X-associated tremor ataxia syndrome (FXTAS). Four patients with FXTAS are described with neuropathy as the presenting feature, two having received a prior diagnosis of Charcot-Marie-Tooth (CMT) disease. A fifth is described with neuropathy as the only clinical feature. A functional connection between ...

The influence of social and information-processing demands on eye-gaze avoidance in individuals with fragile X syndrome, Down syndrome, or typical development were examined by manipulating those demands in a structured-language task. Participants with fragile X syndrome exhibited more gaze avoidance than did those in the comparison groups, but no group ...

This discussion reviews the common causes of Horner's syndrome, with emphasis on case reports from the past several years. Much of the recent literature concerns the use of apraclonidine as a diagnostic test for Horner's syndrome, possibly as an alternative for the current gold standard of cocaine eye drops. This ...

Horner syndrome is an uncommon but important clinical entity, representing interruption of the sympathetic pathway to the eye and face. Horner syndrome is almost always diagnosed clinically, though pharmacological testing can be used to confirm the diagnosis. Imaging modalities such as PET, CT and MRI are important components of work-up ...

rCGG repeats in premutant alleles of the fragile X gene (FMR1) cause neurodegeneration in Drosophila and are thought to cause fragile X-associated tremor/ataxia syndrome in humans. Two reports in this issue of Neuron (Jin et al. and Sofola et al.) present data indicating a disease mechanism involving disruption of RNA-binding ...

BACKGROUND: Dentures in the oesophagus have been associated with various complications; however, Horner's syndrome following denture impaction has not been reported in our locality. CASE REPORT: Horner's syndrome developed in a 26-year-old woman following accidental swallowing of an upper denture which then became impacted in the oesophagus. The denture was ...

The voluntary and reflexive orienting abilities of persons with Down syndrome and fragile X syndrome, at average MA levels of approximately 4 and 7 years, were compared with an RT task. Reflexive orienting abilities appeared to develop in accordance with MA for the participants with Down syndrome but not for ...

The narratives of 18 adolescents and young adults with fragile X syndrome were compared to those of 23 adolescents with Down syndrome and 21 typically developing children matched for nonverbal MA. Narratives were elicited using a wordless picture book and analyzed for use of narrative evaluation, linguistic productivity, and complexity. ...

Harlequin syndrome, the presentation of hemifacial flushing and sweating, is a well recognized, though rarely reported, phenomenon associated with cervical sympathetic trauma. It is thought to result from disruption to sudomotor and vasomotor neurons present in the cervical sympathetic chain. The more common Horner's syndrome classically comprises the triad of ...

A 55-year-old woman developed severe unilateral headaches, periocular numbness, and Horner syndrome after presenting with symptoms consistent with Lyme disease. The combination of Horner syndrome and periocular headache and numbness constituted a diagnosis of Raeder paratrigeminal neuralgia. Although the headaches resolved with antibiotic treatment, the Horner syndrome persisted for at ...

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a newly described disorder characterized by progressive action tremor and ataxia that occurs in premutation carriers of the FMR1 gene. The incidence of FMR1 premutated carriers in the general population is relatively high, and therefore FXTAS might explain a considerable number of sporadic, late-onset ...

Apraclonidine, a selective alpha(2)-agonist, was developed to lower intraocular pressure and minimize the systemic side effects associated with the use of its parent drug, clonidine.(1) An investigation of the site of action of apraclonidine incidentally uncovered a reversal of anisocoria in patients with absent sympathetic innervation of one pupil (Horner ...

Boys with fragile X syndrome with (n = 49) and without (n = 33) characteristics of autism spectrum disorder, boys with Down syndrome (39), and typically developing boys (n = 41) were compared on standardized measures of receptive vocabulary, expressive vocabulary, and speech administered annually over 4 years. Three major ...

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurological progressive disorder associated with the FMR1 gene premutation. We report on variable presentation of findings associated with FXTAS in 3 brothers aged 68, 74, and 73 years, carrying premutation alleles of (CGG)(123,) (CGG)(109), and (CGG)(91) triplets, respectively. Based on previously proposed diagnostic ...

BACKGROUND: Fragile X syndrome (FXS) is the most common known inherited cause of intellectual disability, yet very few studies have explored the language comprehension skills of children with FXS. We examined the receptive vocabulary, grammatical morphology and syntax skills of boys with FXS (who were additionally classified as having autism, ...

PURPOSE: We describe the medical course, neuropathology and testicular pathology in 2 men who died with fragile X associated tremor/ataxia syndrome. Fragile X associated tremor/ataxia syndrome, which is a recently described, late onset neurodegenerative disorder, affects up to a third of males and occasionally females older than age 50 years ...

PURPOSE: This study compared the conversational discourse skills of boys who have fragile X syndrome with and without autism spectrum disorder (ASD) with those of boys with Down syndrome and boys who are typically developing. METHOD: Participants were boys who have fragile X syndrome with (n = 26) and without ...

Horner's syndrome is a potential, albeit rare, feature of continuous infraclavicular brachial plexus local anesthetics infusion, mainly the result of anatomical considerations. Horner's syndrome may be described as an "unpleasant side effect" because it has no clinical consequences in itself. Nevertheless, patient discomfort and anxiety may reduce acceptance of the ...

BACKGROUND: A 76-year-old man presented with an 8-year history of balance problems and a 2-year history of short-term memory loss. He had also been experiencing long-term problems with impotence and episodes of urinary incontinence, and had been managed for hypertension for 25 years. His medical history was otherwise unremarkable. Three ...

BACKGROUND: Fragile X syndrome is caused by the expansion of a CGG trinucleotide repeat at the 5' untranslated region of the fragile X mental retardation 1 gene (FMR1). When expanded to >200 repeats (full mutation), the repeat region and the adjacent promoter CpG island become hypermethylated, rendering FMR1 transcriptionally inactive. ...

Fat embolism syndrome (FES) was first described in 1862, but its frequency today is still unclear. A diagnosis of FES is often missed because of a subclinical illness or coexisting confusing injuries or disease. Fat embolism syndrome develops most commonly after orthopedic injuries, but it has also been reported after ...

We compared the expressive syntax and vocabulary skills of 35 boys with fragile X syndrome and 27 younger typically developing boys who were at similar nonverbal mental levels. During a conversational speech sample, the boys with fragile X syndrome used shorter, less complex utterances and produced fewer different words than ...

Deficits in cognitive functions lead to mental retardation (MR). Understanding the genetic basis of inherited MR has provided insights into the pathogenesis of MR. Fragile X syndrome is one of the most common forms of inherited MR, caused by the loss of functional Fragile X Mental Retardation Protein (FMRP). MicroRNAs ...

OBJECTIVE: The purposes of this study were to review the anatomy of the oculosympathetic pathway, to describe the clinical characteristics of the three types of Horner syndrome, and to illustrate underlying pathologic features with an emphasis on neuroimaging strategies based on three symptom complexes. CONCLUSION: Horner syndrome results from interruption ...

The fragile X-associated tremor/ataxia syndrome (FXTAS) is a newly discovered late-onset neurodegenerative disorder caused by a premutation in the FMR1 X-linked gene. We present examples of a discrepancy between obvious brain changes observed on MRI, and minimal clinical neurological manifestations in three older carriers of this premutation. This discrepancy occurred ...

PURPOSE: To examine the repeatability of detecting pupillary dilation lag in patients with Horner syndrome. DESIGN: Retrospective interventional study. METHODS: Setting: Single referral institution. Patient population: Fifteen patients with unilateral Horner syndrome and 16 subjects with physiologic anisocoria. Intervention procedure: Each subject underwent four pupillometric recordings in darkness. The asymmetry ...

A 45-year-old man developed Horner's syndrome after sustaining an intraoral gunshot in a suicide attempt. Examination did not show any major vascular injury or other neurological symptoms. Radiograph of the skull and helical computed tomography angiography of the brain and neck detected a bullet embedded in the interior of the ...

BACKGROUND: Research on parental well-being has focused largely on Down syndrome and autism; however, fragile X syndrome is likely to pose different challenges for parents compared with these other diagnostic conditions. Moreover, there is considerable variability among youth with fragile X syndrome; for example, 25% to 33% of affected youth ...

This report documents a 47-year-old male who developed acute deficits of the IX, X, XI, XII cranial nerves and Horner's symptoms, consistent with Villaret's syndrome. Neuroimaging studies demonstrated an osteolytic lesion in the skull base involving the clivus and jugular foramen. The patient recovered after the antibiotic treatment for proteus ...

Fragile X and Turner syndromes are two X-chromosome-related disorders associated with executive function and visual spatial deficits. In the present study, we used ocular motor paradigms to examine evidence that disruption to different neurological pathways underlies these deficits. We tested 17 females with fragile X, 19 females with Turner syndrome, ...

Horner's syndrome is uncommon in the paediatric population, but is seen more in infancy, and most cases are either congenital or related to birth trauma, head and neck tumours or thoracic surgery. We report an unusual cause of Horner's syndrome in a healthy adolescent boy secondary to a large, spontaneous, ...