• Lesions to the cerebellum can cause dyssynergia, dysmetria, dysdiadochokinesia, dysarthria and ataxia of stance and gait. (wikipedia.org)
  • Cerebellar dysarthria is also common. (medscape.com)
  • Without adequate levels of vitamin E, individuals with AVED have neurological issues like trouble coordinating movements (ataxia) and speech (dysarthria), loss of reflexes in the legs (lower limb areflexia) and a loss of sensation in the limbs (peripheral neuropathy). (rarediseases.org)
  • High-level prenatal exposure may result in a constellation of developmental deficits that includes mental retardation, cerebellar ataxia, dysarthria, limb deformities, altered physical growth, sensory impairments, and cerebral palsy. (momscleanairforce.org)
  • Spinocerebellar ataxia type 1 (SCA1) is characterized by progressive cerebellar ataxia, dysarthria, and eventual deterioration of bulbar functions. (beds.ac.uk)
  • Ataxia is the term used to describe symptoms and signs resulting from cerebellar dysfunction, manifesting with a combination of gait instability, limb incoordination, slurred speech and nystagmus. (bmj.com)
  • Cerebellar ataxia can occur as a result of many diseases and may present with symptoms of an inability to coordinate balance, gait, extremity and eye movements. (wikipedia.org)
  • Usually, the initial sign in OPCA is a broad-based cerebellar ataxic gait. (medscape.com)
  • Strength was 5/5 in all limbs, and exam was remarkable for ataxia of the trunk with instable gait. (acponline.org)
  • An autosomal dominant cerebellar ataxia characterized by adult-onset, slowly progressive, gait and limb ataxia, often associated with peripheral neuropathy typically affecting the motor system that has_material_basis_in heterozygous mutation in MME on chromosome 3q25.2. (jax.org)
  • Symptoms in cattle include nervousness, kicking, heightened sensory perception and abnormal gait (high stepping and pelvic limb ataxia). (who.int)
  • The core phenotype of SCA27B (GAA-FGF14 ataxia) consists of a slowly progressive cerebellar syndrome characterized by gait ataxia and cerebellar oculomotor impairment. (movementdisorders.org)
  • The first neurological symptoms vary with age of onset: delay in developmental motor milestones (early infantile period), gait problems, falls, clumsiness, cataplexy, school problems (late infantile and juvenile period), and ataxia not unfrequently following initial psychiatric disturbances (adult form). (nih.gov)
  • Approximately 15% of patients follow a primary progressive or progressive relapsing course from disease onset, usually characterized by symptoms of progressive myelopathy (gait instability, spasticity, bladder symptoms) and cognitive impairment. (medscape.com)
  • Other cerebellar findings include nystagmus, dysmetria on finger-to-nose testing, and ataxia on heel-to-shin testing. (medscape.com)
  • Downbeat nystagmus, cerebellar oculomotor signs, impaired visual fixation suppression of the vestibular-ocular reflex, vertiginous symptoms, and visual disturbances frequently co-occur at disease onset. (movementdisorders.org)
  • Ataxia may cause involuntary eye movements (nystagmus), incoordination of hands, difficulty with fine motor tasks (such as eating or writing), slurring of speech, and an unsteady walk. (bcm.edu)
  • Interictally patients can suffer from gaze-evoked nystagmus and mild permanent cerebellar ataxia. (humandiseasegenes.nl)
  • The clinical pattern of cerebellar involvement, rapidity of onset, pace of progression, additional clinical features in combination with appropriate investigations are essential in reaching a diagnosis. (bmj.com)
  • Almost a third of people with isolated, late onset cerebellar ataxia go on to develop multiple system atrophy. (wikipedia.org)
  • Dementia follows seizure onset and is progressive. (medscape.com)
  • SCA14 is an autosomal dominant hereditary cerebellar ataxia that usually has an onset in early to mid adult life, with slow progression and normal lifespan. (nih.gov)
  • A new study published on Dec. 14, 2022 in the New England Journal of Medicine reports the identification of a previously unknown genetic cause of a late-onset cerebellar ataxia, a discovery that will improve diagnosis and open new treatment avenues for this progressive condition. (mcgill.ca)
  • Late-onset cerebellar ataxia (LOCA) is a group of neurodegenerative disorders that manifest with a progressive cerebellar syndrome after the age of 30 years and are often sporadic (i.e., negative family history). (movementdisorders.org)
  • Multiple system atrophy (MSA) is a progressive, sporadic and adult-onset neurodegenerative disease characterized by a combination of autonomic failure with parkinsonism, cerebellar ataxia and autonomic dysfunction ( 1 ). (frontiersin.org)
  • Early-onset profound developmental delay, progressive microcephaly, and hypotonia that develops toward severe spasticity have been previously reported with SEPSECS mutations. (frontiersin.org)
  • However, SEPSECS mutations have been identified in three milder late-onset patients, with cerebellar atrophy first recognized by MRI at 9, 16, and 18 years of age ( 8 , 10 ). (frontiersin.org)
  • Subacute onset of ataxia is usually seen in paraneoplastic cerebellar degeneration. (bcm.edu)
  • Conclusions This report expands the ophthalmological phenotype of the late-onset neurodegenerative form of CHS to include optic neuropathy with progressive vision loss, even in the absence of ocular albinism, and abnormal prominence of the interdigitation zone between cone outer segment tips and apical processes of retinal pigment epithelium cells on macular OCT. (bmj.com)
  • Those with onset after age 60 years may manifest a pure cerebellar phenotype. (beds.ac.uk)
  • ADCA III was a pure form of late-onset cerebellar ataxia without additional features. (beds.ac.uk)
  • Spinocerebellar ataxia type 6 (SCA6, OMIM #183086) is characterized by late-onset slowly progressive ataxia and cerebellar atrophy. (humandiseasegenes.nl)
  • Progressive supranuclear palsy is a rare, degenerative central nervous system disorder that progressively impairs voluntary eye movements and causes bradykinesia, muscular rigidity with progressive axial dystonia, pseudobulbar palsy, and dementia. (msdmanuals.com)
  • When the CNS is involved, patients may demonstrate signs of frontal release (as seen with dementia), meningoencephalitis, or ataxia and clonus (if the cerebellum is affected). (medscape.com)
  • ADCA I was characterized by cerebellar ataxia in combination with various associated neurologic features, such as ophthalmoplegia, pyramidal and extrapyramidal signs, peripheral neuropathy, and dementia, among others. (beds.ac.uk)
  • Their clinical features included progressive hemiballism with choreoathetosis cerebellar ataxia and dementia. (dehydrogenase-signal.com)
  • Ongoing studies include patients with, for example, Parkinson disease, dystonia, ataxia, hereditary causes of dementia or stroke, with a special emphasis on kindred with familial forms of these diseases. (lu.se)
  • 1 , 2 Furthermore, better understanding of the immune aetiology for some of the acquired ataxias (eg, paraneoplastic cerebellar degeneration, gluten ataxia, anti-GAD ataxia, primary autoimmune cerebellar ataxia) 3-5 meant that the overall diagnostic yield of investigating sporadic ataxias has improved considerably in recent years. (bmj.com)
  • Activities of daily living (ADL) were improved by 3,4-DAP in 8 cases that showed mainly weakness of the extremities, but did not improve ADL in 1 case with cerebellar ataxia of paraneoplastic cerebellar degeneration (PCD). (go.jp)
  • Background: Purkinje cytoplasmic autoantibody type 1 (PCA-1)/anti-Yo autoimmunity is a common high-risk paraneoplastic neurological disorder, traditionally attributed antigenically to cerebellar degeneration-related protein 2 (CDR2), predominantly affecting women with gynecologic or breast adenocarcinoma. (bvsalud.org)
  • Cerebellar ataxia is a form of ataxia originating in the cerebellum. (wikipedia.org)
  • For RFC1-linked CANVAS, pedigree studies had previously localized the causal variant to a small region of the genome, while for FGF14 there was strong prior evidence since small sequence variants in FGF14 were already known to cause a form of ataxia. (movementdisorders.org)
  • There are about 150,000 patients affected by some form of ataxia in the United States. (bcm.edu)
  • Generally, cerebellar signs and extrapyramidal signs are the predominant signs of olivopontocerebellar atrophy (OPCA). (medscape.com)
  • Multiple system atrophy (MSA) is a rare and progressive neurodegenerative disorder. (frontiersin.org)
  • Mutations in the human O -phosphoseryl-tRNA:selenocysteinyl-tRNA synthase gene ( SEPSECS) are associated with progressive cerebello-cerebral atrophy (PCCA), also known as pontocerebellar hypoplasia type 2D (PCH2D). (frontiersin.org)
  • Although harboring different mutant alleles, patients presented remarkably similar phenotypes typified by an autosomal recessive progressive microcephaly with profound developmental delay, progressive brain atrophy, and hypotonia ( 6 , 7 , 9 ). (frontiersin.org)
  • Repeated magnetic resonance imaging (MRI) of affected individuals revealed progressive cerebellar atrophy followed by cerebral atrophy involving both white and gray matter. (frontiersin.org)
  • We hereby report on a mild phenotype without progressive microcephaly and brain atrophy up to 3 years of age in a Chinese pediatric patient who harbored biallelic SEPSECS mutations. (frontiersin.org)
  • Multiple system atrophy (MSA) is a progressive neurodegenerative disease with 12,000 patients in Japan, which is clinically characterized by autonomic failure in addition to various combinations of parkinsonism, and cerebellar ataxia. (jnss.org)
  • brain imaging typically shows cerebellar and brain stem atrophy. (beds.ac.uk)
  • Spinocerebellar ataxia type 15 (SCA15) is a progressive neurodegenerative disorder characterized by pure cerebellar ataxia, very slow progression, and distinct cerebellar atrophy. (neurology.org)
  • The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies. (nih.gov)
  • Autosomal recessive spastic ataxia of Charlevoix-Saguenay, more commonly known as ARSACS, is a condition affecting muscle movement. (nih.gov)
  • Neurological involvement included parkinsonism, cerebellar ataxia and spastic paraparesis. (bmj.com)
  • The Cerebellar Ataxia & Hereditary Spastic Paraplegias Disease Knowledge Page provides reference information on care of cerebellar ataxia and hereditary spastic paraplegias. (ern-rnd.eu)
  • Cerebellar deficits can be estimated using clinical rating scales, such as SODA for ocular deficits. (wikipedia.org)
  • Typically, the clinical manifestations of OPCA consist of a slowly progressive pancerebellar syndrome that usually begins in the lower extremities and then progresses to the upper extremities and the bulbar musculature. (medscape.com)
  • Specific syndromes of progressive myoclonic epilepsy with key clinical features include Unverricht-Lundborg disease (Baltic myoclonus), myoclonus epilepsy with ragged red fibers (MERRF), neuronal ceroid lipofuscinoses (Batten disease), and sialidoses (cherry-red spot myoclonus syndrome). (medscape.com)
  • The purpose of this clinical vignette is to broaden our differential diagnosis for ataxia and explore a rare presentation of paralysis. (acponline.org)
  • Peripheral polyneuropathy, cerebellar ataxia, retinitis pigmentosa , and ichthyosis are the major clinical components. (medscape.com)
  • The biallelic deletion of Trsp in mice (which impedes selenoprotein synthesis) resulted in cerebellar hypoplasia, seizure, and developmental delay ( 4 )-phenotypes that are congruent with those described in previous clinical reports of SEPSECS mutations ( 5 - 11 ). (frontiersin.org)
  • The diagnosis of ataxia is made after a careful, detailed clinical examination by a neurologist. (bcm.edu)
  • 2006). Spinocerebellar ataxias in 114 Brazilian families: Clinical and molecular findings [3] . (up.pt)
  • Progressive clinical improvement was obtained after corticosteroid treatment. (univr.it)
  • The autosomal dominant cerebellar degenerative disorders are generally referred to as 'spinocerebellar ataxias,' (SCAs) even though 'spinocerebellar' is a hybrid term, referring to both clinical signs and neuroanatomical regions (Margolis, 2003). (beds.ac.uk)
  • Neuropathologists have defined SCAs as cerebellar ataxias with variable involvement of the brainstem and spinal cord, and the clinical features of the disorders are caused by degeneration of the cerebellum and its afferent and efferent connections, which involve the brainstem and spinal cord (Schols et al. (beds.ac.uk)
  • Historically, Harding (1982) proposed a clinical classification for autosomal dominant cerebellar ataxias (ADCAs). (beds.ac.uk)
  • Retinitis pigmentosa (RP) is a large group of rare eye diseases that cause progressive degeneration of the membrane lining the eyes (retina). (rarediseases.org)
  • Damage or degeneration in the back part of the brain called the cerebellum results in ataxia. (bcm.edu)
  • Primary lateral sclerosis Amyotrophic lateral sclerosis and other motor neuron diseases are characterized by steady, relentless, progressive degeneration of corticospinal tracts, anterior horn cells, bulbar motor nuclei. (msdmanuals.com)
  • ADCA II was characterized by the cerebellar ataxia, associated neurologic features, and the additional findings of macular and retinal degeneration. (beds.ac.uk)
  • Stiff-person spectrum disorders encompass classical stiff-person syndrome, partial/focal stiff-person forms such as stiff-limb and stiff-trunk, pure cerebellar ataxia, and a severe encephalomyelitic form referred to as progressive encephalomyelitis with rigidity and myoclonus (PERM). (arupconsult.com)
  • The entire spectrum of cerebellar ocular motility disorders can occur in persons with OPCA. (medscape.com)
  • There are many causes of ataxia but most can be categorized as sporadic (no specific cause), genetic (also referred to as hereditary or running in families) or secondary to a medical illness, certain drugs, or an injury to the brain. (bcm.edu)
  • Hereditary or genetic ataxias occur because of gene mutations that lead to abnormal proteins making neurons function abnormally. (bcm.edu)
  • Progressive neurological signs were observed in 2/6 surviving individuals. (nature.com)
  • Heart failure and sudden cardiac arrest occur at various ages with inter- and intrafamilial phenotypic variability, and presentation can include progressive neurological disease. (nature.com)
  • In 1991 neurological examination showed cerebellar ataxia and bilateral Babinski's signs. (bmj.com)
  • In 1994, after three years of progressive neurological dysfunction, diagnosis of Erdheim-Chester disease was made by analysis of biopsies of the femur bones, showing infiltration with foamy histiocytes lacking Birbeck granules and S-100 protein, and with few lymphocytes. (bmj.com)
  • Neurological examination showed cerebellar ataxia and dysmetria of four limbs, tetrapyramidal syndrome with brisk deep tendon reflexes of four limbs, and bilateral Babinski's signs. (bmj.com)
  • Early neurological signs can be vague and intermittent, and varies from mild weakness or ataxia to profound weakness, blindness or seizures. (vin.com)
  • Once the presence of ataxia has been determined, the cause is determined based on the time course and other neurological features (described below). (bcm.edu)
  • Although immunization with meningococcal group C conjugate vaccines has been associated with several neurological side effects, acute cerebellar ataxia has not been previously reported. (univr.it)
  • It is thought that the buspirone increases the serotonin levels in the cerebellum and so decreases ataxia. (wikipedia.org)
  • Cerebellum & Ataxias. (wikipedia.org)
  • GAD65 is involved in the synthesis, packaging, and release of GABA, whereas the other three play important roles in the induction of long-term depression (LTD). Thus, the auto-antibodies toward these synaptic molecules likely impair fundamental synaptic machineries involved in unique functions of the cerebellum, potentially leading to the development of cerebellar ataxias (CAs). (springer.com)
  • Autoimmunity affects the cerebellum, leading to the manifestations of the cerebellar ataxias (CAs), termed immune-mediated cerebellar ataxia (IMCAs). (springer.com)
  • This is a condition in which cancer in the breast, lungs, ovaries, or other areas in the body produces antibodies that affect the cerebellum and cause ataxia. (bcm.edu)
  • Overview of Movement and Cerebellar Disorders Voluntary movement requires complex interaction of the corticospinal (pyramidal) tracts, basal ganglia, and cerebellum (the center for motor coordination) to ensure smooth, purposeful movement. (msdmanuals.com)
  • 3 4 We report on two patients with Erdheim-Chester disease with slowly progressive cerebellar dysfunction, associated with pyramidal symptoms. (bmj.com)
  • Ataxia with vitamin E deficiency (AVED) is a rare progressive neurodegenerative disorder affecting movement and motor control caused by very low vitamin E levels in the blood. (rarediseases.org)
  • Spinocerebellar ataxia type 35 (SCA35) is a rare, autosomal dominant neurodegenerative disorder associated with mutations in TGM6 gene that encode the protein transglutaminase 6 (TG6). (ataxia.org)
  • Fragile X-associated tremor/ataxia syndrome (FXTAS) is a progressive neurodegenerative disorder caused by a repeat expansion in the fragile X mental retardation 1 (FMR1) gene. (northwestern.edu)
  • In addition to cerebellar impairment, vestibular hypofunction and afferent sensory defect can be observed in SCA27B. (movementdisorders.org)
  • A neurologist can usually differentiate between the two types of ataxia: motor and sensory. (bcm.edu)
  • 2010). Sensory neuronopathy in ataxia with oculomotor apraxia type 2 . (up.pt)
  • We have subsequently mapped two Japanese families presenting with ataxia and postural tremor of the head, arm, or trunk to the SCA15 locus. (neurology.org)
  • At the time of admission, the patient showed cerebellar ataxia but no further neurologic deficits. (cdc.gov)
  • Symptoms develop progressively and slowly with neurologic (eg, mild peripheral intermittent neuropathy, tinnitus, anosmia) and ophthalmic (eg, failing vision, night blindness as a result of progressive retinitis pigmentosa) manifestations. (medscape.com)
  • [ 21 , 22 ] One review noted that supranuclear ophthalmoplegia and cerebellar ataxia were two of the most common neurologic findings. (medscape.com)
  • AT is a progressive neurologic disorder. (lu.se)
  • Spinocerebellar ataxia type 3 (SCA3)/Machado-Joseph disease was the most common dominant ataxia , followed by SCA2 and SCA6. (nih.gov)
  • Spinocerebellar ataxia type 14 . (nih.gov)
  • 14 -3-3 proteins and spinocerebellar ataxia type 1: from molecular interaction to human neuropathology. (nih.gov)
  • Despite undeniable progresses in the knowledge concerning the molecular pathology of Machado- Joseph disease (MJD)/Spinocerebellar ataxia type 3 (SCA3), therapeutic compounds remain to be discovered and validated. (ataxia.org)
  • 2005). A novel H101Q mutation causes PKCγ loss in spinocerebellar ataxia type 14 . (up.pt)
  • 2006). Reduced penetrance of intermediate size alleles in spinocerebellar ataxia type 10 . (up.pt)
  • 2017). Spinocerebellar ataxia type 10: common haplotype and disease progression rate in Peru and Brazil . (up.pt)
  • 2013). The Prevalence of Familial Hemiplegic Migraine With Cerebellar Ataxia and Spinocerebellar Ataxia Type 6 in Portugal . (up.pt)
  • spinocerebellar ataxia type 15. (neurology.org)
  • A genetic diagnosis was achieved in 57% of all familial ataxias. (bmj.com)
  • Making a diagnosis of the cause of ataxia is essential due to potential therapeutic interventions for immune and some genetic ataxias. (bmj.com)
  • 2017). A recessive ataxia diagnosis algorithm for the next generation sequencing era . (up.pt)
  • Autosomal dominant cerebellar ataxia, deafness, and narcolepsy (ADCADN) is a nervous system disorder with signs and symptoms that usually begin in mid-adulthood and gradually get worse. (medlineplus.gov)
  • The progressive death of nerve cells in the brain and other tissues leads to the signs and symptoms of CLN2 disease. (checkorphan.org)
  • Our results suggest that 3,4-DAP treatment is effective for weakness and autonomic symptoms, but may be ineffective for ataxia of PCD. (go.jp)
  • When Do Symptoms of Renal tubulopathy, diabetes mellitus, and cerebellar ataxia due to duplication of mitochondrial DNA Begin? (nih.gov)
  • Symptoms of progressive supranuclear palsy usually begin in late middle age. (msdmanuals.com)
  • In this patient, cerebellar symptoms started within 24 hours from the vaccination, and infective causes have been ruled out by serum and liquoral analyses. (univr.it)
  • This results in ataxia, which is difficulty controlling body movements and numbness of the hands and feet (peripheral neuropathy). (rarediseases.org)
  • 2004). A novel R1347Q mutation in the predicted voltage sensor segment of the P/Q-type calcium-channel α1A-subunit in a family with progressive cerebellar ataxia and hemiplegic migraine [6] . (up.pt)
  • Gluten ataxia accounts for 40% of all sporadic idiopathic ataxias and 15% of all ataxias. (wikipedia.org)
  • Non-progressive cerebellar ataxia, aplasia of pupillary zone of iris, and mental subnormality (Gillespie's syndrome) affecting 3 members of a non-consanguineous family in 2 generations. (bmj.com)
  • A 62 year old woman without medical history was admitted in December 1995 for biological inflammatory syndrome and ataxia. (bmj.com)
  • Such expansions undoubtedly cause cerebellar ataxia-neuropathy-vestibular areflexia syndrome (CANVAS) and other types of LOCA, often accompanied by neuropathy and/or bilateral vestibulopathy. (movementdisorders.org)
  • Our results strongly confirm that ITPR1 is the causative gene for SCA15 and suggest that we need to investigate the point mutation in ITPR1 in the patients with autosomal dominant cerebellar ataxia and tremor. (neurology.org)
  • The disorder is characterized by kinetic tremor and cerebellar ataxia, shows age-dependent penetrance, and occurs more frequently in men. (northwestern.edu)
  • Non-progressive congenital ataxia (NPCA) is a classical presentation of cerebral ataxias. (wikipedia.org)
  • Congenital ataxias occur in children, and they are most commonly due to structural abnormalities in the brain that occur before or during birth. (bcm.edu)
  • idiopathic neonatal hepatitis and other causes of cholestatic icterus should be considered in neonates, and conditions with cerebellar ataxia, dystonia, cataplexy and supranuclear gaze palsy in older children and adults. (nih.gov)
  • Ataxia describes a condition characterized by poor coordination of movements. (bcm.edu)
  • There is now moderate level evidence that rehabilitation is efficient to improve postural capacities of patients with cerebellar ataxia - particularly in patients with degenerative ataxia or multiple sclerosis. (wikipedia.org)
  • Drugs have only been studied in degenerative ataxia, and the level of evidence is low. (wikipedia.org)
  • Late infantile neuronal ceroid lipofuscinosis (also known as LINCL, Jansky-Bielschowsky and late infantile CLN2/TPP1 disorder) is part of a group of progressive degenerative neurometabolic disorders known as the ceroid lipofuscinosis neuronal (CLNs). (checkorphan.org)
  • 2015). Mutations in PNKP cause recessive ataxia with oculomotor apraxia type 4 . (up.pt)
  • This consists of a triad of multiple seizure types, cerebellar impairment, and cognitive deterioration. (medscape.com)
  • Primary auto-immune ataxias (PACA) lack diagnostic biomarkers. (wikipedia.org)
  • Twenty per cent had a family history, the remaining having sporadic ataxia. (bmj.com)
  • Cerebellar ataxias can be classified as sporadic, autosomal recessive, X-linked, autosomal dominant and of mitochondrial origin. (wikipedia.org)
  • The cause of progressive supranuclear palsy is unknown. (msdmanuals.com)
  • Early signs may include loss of muscle coordination (ataxia) and seizures that do not respond to drugs. (checkorphan.org)
  • Clinicians often use visual observation of people performing motor tasks in order to look for signs of ataxia. (wikipedia.org)
  • Two patients with Erdheim-Chester disease with progressive cerebellar dysfunction and pyramidal signs are reported on. (bmj.com)
  • This category is inherited as an autosomal recessive trait and is characterized by altered peroxisome assembly, resulting in multiple peroxisome enzyme deficiencies, complex developmental sequelae, and progressive disabilities. (medscape.com)
  • Background Cerebellar ataxias are the result of diverse disease processes that can be genetic or acquired. (bmj.com)
  • Methods All patients were referred to the Sheffield Ataxia Centre, UK, and underwent extensive investigations, including, where appropriate genetic testing using next-generation sequencing (NGS). (bmj.com)
  • Advances in genetic testing have significantly improved the diagnostic yield of patients suspected of having a genetic ataxia. (bmj.com)
  • Ataxias are rare and can be caused by a variety of disease processes that can broadly be divided into genetic or acquired. (bmj.com)
  • With the introduction of next-generation and exome sequencing, it has been possible to improve the diagnostic yield for genetic ataxias. (bmj.com)
  • The main goal of our project is the development of a powerful genetic model to investigate pathogenesis of spinocerebellar ataxia with axonal neuropathy-1 (SCAN-1) disease. (ataxia.org)
  • Male or female patient with either increased radiation induced chromosomal breakage in cultured cells, or progressive cerebellar ataxia, who has disabling mutations on both alleles of ATM. (lu.se)
  • 2 Only a few patients with cerebellar dysfunction have been described. (bmj.com)
  • Cerebellar dysfunction was slowly progressive. (bmj.com)
  • Ataxia can occur suddenly (acute), over weeks (subacute), or slowly progressive over months to years (chronic). (bcm.edu)
  • In children, bacterial or viral infections can cause acute ataxia and this usually improves with time. (bcm.edu)
  • Acute cerebellar ataxia is the most common cause of childhood ataxia, usually resulting from infections or vaccinations. (univr.it)
  • Cases of acute cerebellar ataxia have been reported as a consequence of several viral and bacterial infections as well as immunizing agents, such as varicella, influenza, hepatitis B, and diphtheria-pertussis-tetanus vaccines. (univr.it)
  • The authors describe a case of a 12-year-old girl exhibiting acute cerebellar ataxia following meningococcal group C conjugate vaccination. (univr.it)
  • This case increases the small number of postvaccinal ataxias and contributes to further clarifying the complex pathogenesis of this disorder. (univr.it)
  • Here we present our 20-year experience of prospectively evaluating 1500 patients with progressive ataxia at the Sheffield Ataxia Centre, Sheffield, UK. (bmj.com)
  • While it remains to be seen how these new insights can be translated into better treatments for patients, it is exciting to see the new developments in the genetics of ataxia. (movementdisorders.org)
  • More than half of patients with SCA27B display sensitivity to alcohol, which may trigger episodes of ataxia or dramatically worsen baseline ataxia. (movementdisorders.org)
  • Immunocompromised patients with progressive varicella are probably contagious during the entire period new lesions are appearing. (cdc.gov)