Fragile X-associated tremor/ataxia syndrome, a neurodegenerative disorder associated with premutation alleles (55-200 CGG repeats) of the FMR1 gene, affects many carriers in late-life. Patients with fragile X-associated tremor/ataxia syndrome typically have cerebellar ataxia, intranuclear inclusions in neurons and astrocytes, as well as cognitive impairment. Dementia can also be present with ...

Fragile X-associated tremor/ataxia syndrome (FXTAS) is an adult-onset neurodegenerative disorder among carriers of premutation expansions (55-200 CGG repeats) of the fragile X mental retardation 1 (FMR1) gene. The clinical features of FXTAS, as well as other forms of clinical involvement in carriers without FXTAS, are thought to arise from a ...

Horner syndrome, a triad of ptosis, anisocoria, and anhidrosis, results from interruption in the oculosympathetic pathway. It is classically described as either congenital or acquired to depict its underlying pathophysiology and requisite work-up. We report a case of a 10-month-old infant presenting with an acute onset of left Horner syndrome ...

This report presents an ideal case of a girl with Fragile X syndrome. There is positive family history of the same condition. The analysis revealed low average IQ with attention deficit, shyness, and social withdrawal. The report shows that girls with Fragile X might have only mild cognitive deficits that ...

This article examines the place of religion in the narratives of mothers of children with fragile X syndrome. In semistructured interviews, a majority of women combined narratives of religious practice with illness narratives, interpreting their children's disabilities within a religious framework. Informed by Arthur Frank's (1995) concept of "wounded storytellers," ...

FXS (Fragile X syndrome) is the most common genetically inherited form of cognitive impairment. The predominant cause of the syndrome is the loss of a single protein, FMRP (Fragile X mental retardation protein). Many of the cognitive and behavioural features found in Fragile X individuals emerge during childhood and are ...

A 22-year-old man who was discovered unarousable after an accidental methadone overdose complained of worsening neck pain and left arm weakness over the next week. Examination disclosed a left Horner syndrome and a left brachial plexopathy. Imaging showed a left paraspinal mass adjacent to the sympathetic pathway at the fourth ...

BACKGROUND/OBJECTIVE: The fragile X-associated tremor/ataxia syndrome is characterized by intention tremor and ataxia in people who are premutation carriers of the Fragile X gene. Patients with this disorder might also demonstrate signs of dementia with parkinsonian features. We report a patient with dementia and parkinsonian signs who did not demonstrate ...

A 40-year-old man developed a Horner syndrome as part of a dorsolateral medullary brainstem infarction. Thirty-six hours after the onset of the stroke, topical instillation of 0.5% apraclonidine produced reversal of anisocoria. This is the first case in which apraclonidine testing has been applied to a patient with a Horner ...

Abstract Fat embolism syndrome is a rare complication that develops after extended soft tissue disruption by liposuction, in particular if combined with time consuming, multiple procedures. Early signs are non-specific and often not considered, so that diagnosis and correct management may be delayed. We report a case in which liposuction ...

To demonstrate the importance of thorough investigation of patients with Horner syndrome, and to explain the relevant anatomy. A 46-year-old man presented with right-sided Horner syndrome. No other abnormality was found. Magnetic resonance imaging showed calcification of the stylohyoid ligament, with a pseudoarthrosis in the mid-portion of the ligament. This ...

Many drugs have been developed that are able to modulate the GABAergic system, which is involved in anxiety, depression, epilepsy, insomnia, and learning and memory. The recent observation that the GABA(A) receptor is underexpressed in the fragile X syndrome, an inherited mental retardation disorder, therefore raised hopes for targeted therapy ...

The clinical presentation of Pourfour du Petit syndrome (PdPs) is the opposite of Horner syndrome. Although all disorders underlying Horner syndrome may potentially present as PdPs, very few cases of the latter have been described in the literature. We report a patient with PdPs due to carotid compression by a ...

Irritable bowel syndrome (IBS) is a chronic disorder that affects primarily female patients and is thought also to afflict approximately 7%-10% of the population of the Western World. Although bowel habits may change over the course of years, patients with IBS are characterized according to their predominant bowel habit, constipation ...

Burning mouth syndrome mainly affects women, particularly after the menopause, when its prevalence may be 18% to 33%. METHODS AND OUTCOMES: We conducted a systematic review and aimed to answer the following clinical question: What are the effects of treatments for burning mouth syndrome? We searched: Medline, Embase, The Cochrane ...

A 71-year-old man developed postural tremor and was treated as an essential tremor patient. Nine years after the tremor onset, he developed symptoms resembling Fragile-X-associated tremor/ataxia syndrome (FXTAS), including exacerbated (increased coarseness and amplitude) tremor in the right arm, ataxic gait, and brain MRI showed lesions in the bilateral middle ...

Fragile X-associated tremor/ataxia syndrome is a late adult onset neurodegenerative disorder that affects individuals who carry a premutation CGG repeat expansion (55-200 CGG repeats) in the 5' untranslated portion of the fragile X mental retardation 1 (FMR1) gene. Affected individuals display cognitive decline, progressive intention tremor, gait ataxia, neuropathy, psychiatric ...

A 52-year-old man developed a unilateral Horner syndrome following a skiing accident. He was otherwise asymptomatic. Neuroimaging with magnetic resonance revealed bilateral internal carotid artery dissections, and he was urgently treated with anticoagulation. Immediate neuroimaging should be performed in any patient with Horner syndrome following trauma, regardless of other symptoms ...

The gene responsible for Fragile X syndrome, fragile X mental retardation-1 (FMR1), contains an unstable sequence of CGG trinucleotide repeats in its promoter region. Expansions of >200 trinucleotide repeats are considered full mutations and typically lead to abnormal methylation of the region resulting in loss of FMR1 expression. Males with ...

Syringomyelia (SM) is a disorder in which a cyst forms within the spinal cord. This cyst, called a syrinx, expands and elongates over time, destroying the center of the cord. Horner syndrome is an infrequent illness caused by a lesion of the cervical sympathetic nerve fiber. Its clinical features are ...

Fragile X syndrome, the main cause of inherited mental retardation, is caused by transcriptional silencing of the fragile X mental retardation gene, FMR1. Absence of the associated protein FMRP leads to the dysregulation of many genes creating a phenotype of ADHD, anxiety, epilepsy and autism. The core aim of this ...

Fragile X-syndrome is caused by a mutation in chromosome X. It is one of the most frequent causes of learning disability. The most frequent manifestations of fragile X-syndrome are learning disability, different orofacial morphological alterations and an increase in testicle size. The disease is associated with cardiac malformations, joint hyperextension ...

OBJECTIVE: To report a case of Horner syndrome as the initial sign of locally advanced anaplastic thyroid cancer. METHODS: We present a case report in conjunction with a retrospective review and evaluation of the English-language literature on Horner syndrome and thyroid pathologic conditions. RESULTS: Horner syndrome is a rare complication ...

PURPOSE: To compare the phonological accuracy and speech intelligibility of boys with fragile X syndrome with autism spectrum disorder (FXS-ASD), fragile X syndrome only (FXS-O), Down syndrome (DS), and typically developing (TD) boys. METHOD: Participants were 32 boys with FXS-O (3-14 years), 31 with FXS-ASD (5-15 years), 34 with DS ...

Noncoding RNAs play important and diverse regulatory roles throughout the genome and make major contributions to disease pathogenesis. The FMR1 gene is involved in three different syndromes: fragile X syndrome (FXS), primary ovarian insufficiency (POI), and fragile X-associated tremor/ataxia syndrome (FXTAS) in older patients. Noncoding RNAs have been implicated in ...

OBJECTIVE: We describe 2 cases of Horner syndrome after epidural test dose injections in thoracic surgery patients. The Horner syndrome was transient and did not recur with full epidural activation and infusion. CASE REPORT: Two patients undergoing thoracic surgery procedures received preoperative midthoracic epidural catheters for postoperative analgesia. Following the ...

There is increasing evidence that inflammation or a disturbance of the flora within the gut might contribute to the pathogenesis of irritable bowel syndrome (IBS), at least in a proportion of cases. As a consequence it has been speculated that, as some probiotic bacteria have a range of anti-inflammatory and ...

The authors examined 400 ms delay eyeblink classical conditioning in 20 participants with Fragile X syndrome ages 17 to 77 years, and 20 age-matched, healthy control participants. The participants in the Fragile X group demonstrated impaired learning and abnormal conditioned response timing. Adults with Fragile X (n=16) were also tested ...

Continuous incisional infusion of local anesthetic through an extrapleural catheter to achieve an intercostal nerve block is a safe and effective adjunct to control postoperative pain after thoracotomy. Local and systemic complications are rare. Here we present a case of an acute, reversible, post-thoracotomy Horner syndrome associated with the use ...

Within the past few years, there has been a significant change in identifying and characterizing the FMR1 premutation associated phenotypes. The premutation has been associated with elevated FMR1 mRNA levels and slight to moderate reductions in FMRP levels. Furthermore, it has been established that approximately 20% of female premutation carriers ...

Fragile X syndrome (FXS) is the most common inherited form of mental retardation and a leading genetic cause of autism. There is increasing evidence in both FXS and other forms of autism that alterations in synapse number, structure, and function are associated and contribute to these prevalent diseases. FXS is ...

The FMR1 gene is involved in three different syndromes, the fragile X syndrome (FXS), premature ovarian insufficiency (POI) and the fragile X-associated tremor/ataxia syndrome (FXTAS) at older age. Fragile X syndrome is caused by an expansion of a CGG repeat above 200 units in the FMR1 gene resulting in the ...

The FMR1 mutations can cause a variety of disabilities, including cognitive deficits, attention-deficit/hyperactivity disorder, autism, and other socioemotional problems, in individuals with the full mutation form (fragile X syndrome) and distinct difficulties, including primary ovarian insufficiency, neuropathy and the fragile X-associated tremor/ataxia syndrome, in some older premutation carriers. Therefore, multigenerational ...

A 74-year-old woman presented with abducens nerve palsy, postganglionic Horner syndrome and sensory disturbance in the territory of the ophthalmic nerve on the left side. Cranial magnetic resonance imaging demonstrated a gadolinium-enhanced lesion within the left cavernous sinus. Thereafter, uterine cervical cancer was detected as the origin of this intra-cavernous ...

This study aimed at developing through three clinical cases, the usefulness of topical apraclonidine 0.5% to confirm a diagnosis of Bernard-Horner syndrome. Pupil diameter measurements were performed in indoor, bright and dim light successively. Apraclonidine 0.5% was then applied topically to both eyes, and pupils were observed at 30 and ...

Fragile X-associated tremor/ataxia syndrome is a recently discovered disorder affecting more of one third of older adult male carriers of premutation alleles of fragile X mental retardation 1 (FMR1 gene). There is no established treatment.The 66-year-old right-handed grandfather of a boy with fragile X syndrome, a carrier of premutation alleles ...

Horner's syndrome is characterized by a classic triad of ipsilateral pupillary miosis, partial eyelid ptosis, and facial anhydrosis. This case study reports a 7-year-old boy with right miosis, mild blepharoptosis, and iris hypopigmentation detected in a routine pediatric follow-up without ipsilateral facial anhydrosis, flushing, or pain. There was no history ...

OBJECTIVES: To assess the incidence and risk factors for fat embolism syndrome. MATERIALS AND METHODS: Data from the National Hospital Discharge Survey (NHDS) were analyzed using International Classification of Diseases, Ninth Revision, Clinical Modification (ICD-9-CM) codes. RESULTS: From 1979 through 2005 among 928,324,000 patients discharged from short-stay hospitals in the ...

BACKGROUND: Fat embolization and fat embolism syndrome are poorly understood complications of skeletal trauma. Fat embolism syndrome is a clinical diagnosis, and patients typically present with a classic triad of petechial rash, pulmonary distress, and neurologic dysfunction. The incomplete form of the syndrome (i.e., cerebral fat embolism) is a more ...

Several studies have suggested that fragile X syndrome (FRAXA), the most common inherited form of mental retardation, originated from a limited number of founder chromosomes. The aim of this study is to assess the genetic origin of fragile X syndrome in a Croatian population. We performed a haplotype analysis of ...

Horner's Syndrome results from paralysis of the ipsilateral sympathetic cervical chain (stellate ganglion) caused by surgery, drugs (mainly high concentrations of local anesthetics), local compression (hematoma or tumor), or inadequate perioperative positioning of the patient. It occurs in 100 % of the patients with an interscalene block of the brachial ...

Background: Internal carotid artery dissection typically presents with a clear history of blunt cranial-cervical trauma. Presenting symptoms include headache, focal cerebral ischemic symptoms, and oculosympathetic paresis (Horner syndrome). It is usually thought that internal carotid dissection is a serious but infrequent cause of Horner syndrome. Objective: A review of the ...

Three patients developed a postganglionic Horner syndrome during the course of an ipsilateral uncomplicated middle ear infection. The mechanism may be an effect on the middle ear caroticotympanic sympathetic plexus, for which there is considerable anatomic and physiologic evidence. Why Horner syndrome does not occur more often after middle ear ...

A 54-year-old woman who underwent chest tube placement after a lung biopsy was found on the first postoperative day to have ipsilateral ptosis and miosis, suggesting a Horner syndrome. A chest CT scan showed that the tip of the chest tube was apposed to the stellate ganglion. Repositioning of the ...

We report a patient with Horner syndrome together with anhidrosis affecting the ipsilateral face and extremities confirmed with starch-iodine and sympathetic skin response testing. No anatomic lesion was apparent. This is the first reported case in which Horner syndrome has been associated with such extensive hemibody sympathetic dysfunction in the ...

Horner syndrome, consisting of ipsilateral miosis, upper eye lid ptosis, and facial anhidrosis, has been reported as a rare complication of internal jugular vein catheterization. In this paper, we describe a nine-year-old girl presenting with postganglionic Horner syndrome, in whom right-sided ptosis and miosis occurred after ipsilateral percutaneous internal jugular ...

Movement disorders other than late onset tremor-ataxia in association with fragile X syndrome, the most common identifiable cause of inherited mental retardation, seem to be rare. Here we describe five male patients from three unrelated families with fragile X syndrome that presented with motor and phonic tics. Clinically, 4 patients ...

The most common cause of fragile X syndrome is expansion of a CGG trinucleotide repeat in the 5'UTR of FMR1. This expansion leads to transcriptional silencing of the gene. However, other mutational mechanisms, such as deletions of FMR1, also cause fragile X syndrome. The result is the same for both ...

Although Horner's syndrome is usually taken as an absolute indicator of avulsions of the C8 and T1 ventral roots in adult brachial plexus injury, its pathological basis in obstetric brachial plexus palsy (OBPP) is unclear. We therefore examined the morphological mechanism for the presence of Horner's syndrome in brachial plexus ...

BACKGROUND: Because of denervation supersensitivity, a miotic pupil in a sympathetically-denervated eye dilates in response to a dilute or weak alpha-1-agonist drug. A reversal of anisocoria after topical apraclonidine is considered as a positive test result that diagnoses a unilateral Horner syndrome. HISTORY AND SIGNS: Two women aged 34 and ...