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Ataxias: Pathogenesis, Types, Causes and Treatment

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Muğla Sıtkı Koçman Üniversitesi Tıp Dergisi 2017;4(2):32-39 Derleme/Review Medical Journal of Mugla Sitki Kocman University 2017;4(2):32-39 Tanburoğlu and Karataş Ataxias: Pathogenesis, Types, Causes and Treatment Ataksiler: Patogenez, Tipleri, Nedenleri ve Tedavisi 1 1 Anıl TANBUROĞLU , Mehmet KARATAŞ 1Başkent University, Adana Dr. Turgut Noyan Training and Research Center Neurology Clinic Adana, Turkey Abstract Öz Ataxia refers to incoordination in voluntary movements and Ataksi istemli hareketlerde inkoordinasyon ve anormal postüral abnormal postural control. There are many different statements kontrol anlamına gelir. Ataksinin tanımına, kapsamına ve concerning the definition, scope and terminology of ataxia. terminolojisine ilişkin birçok farklı ifade vardır. Farklı klinik Different clinical findings, exposure to different neurological bulgular, farklı nörolojik yapıların etkilenmesi ve birçok neden her structures and several causes play a role in the formation of each bir ataksi tipinin ortaya çıkmasında rol oynar. Olguların çoğunda ataxia type. In most cases, there is no cure for ataxia and a ataksinin tedavisi yoktur ve semptomları kontrol etmek için destek supportive treatment is necessary to control the symptoms. Ataxia tedavisi gereklidir. Ataksi sıklıkla serebellum ve vestibüler, usually results from a damage to the cerebellum and its connections proprioseptif ve görsel sistemler gibi sistemlerle bağlantılarının such as the vestibular, proprioceptive and visual systems. hasarından kaynaklanır. Ataksiler klinik olarak serebellar, Clinically, ataxias can be subdivided into cerebellar, vestibular, vestibüler, duyusal, frontal, optik, görsel, mikst tip ataksi ve sensory, frontal, optic, visual, mixed ataxia and ataxic-hemiparesis. ataksik – hemiparezi şeklinde alt gruplara ayrılabilir. Ataksiler Etiologically, ataxias may be divided into hereditary ataxias, etyolojik olarak herediter ataksiler, sporadik dejeneratif ataksiler sporadic degenerative ataxias and acquired ataxias. Genetic forms ve edinilmiş ataksiler olarak gruplanabilir. Ataksilerin genetik of ataxia must be distinguished from the acquired ataxias including formları mutlaka kronik alkol kullanımı, serebrovasküler chronic alcohol use, cerebrovascular disorders, various toxic hastalıklar, çeşitli toksik ajanlar, immun – aracılıklı inflamasyon, agents, immune-mediated inflammation, vitamin deficiencies, and vitamin eksiklikleri ve kronik santral sinir sistemi enfeksiyonlarını chronic central nervous system infections. After the treatment of içeren edinilmiş ataksilerden ayırt edilmelidir. Ataksi sıklıkla identified acquired causes, since ataxia is usually resistant to medikal tedavilere dirençli olduğu için, saptanan edinilmiş medical treatments, the management is supportive but may involve nedenlerin tedavisinden sonraki tedavi destek tedavisidir fakat physical, occupational, and speech therapy. fiziksel, mesleki ve konuşma terapilerini içerebilir. Keywords: Ataxia, Causes, Pathogenesis, Types of Ataxia, Anahtar Kelimeler: Ataksi, Ataksi Tipleri, Nedenleri, Patogenez, Treatment Tedavi Başvuru Tarihi / Received: 28.02.2018 Kabul Tarihi / Accepted : 20.03.2018 Pathogenesis Introduction Ataxia describes a lack of muscle coordination during voluntary movements and inadequate The word ataxia is derived from Greek roots (“a- postural control. Ataxia usually results from a ” a negative prefix and “taxia” to put in order), that damage to the cerebellum and its connections. The means “without order.” In a medical sense, it refers cerebellum plays a major role in establishing balance to lack of coordination and insufficient postural and coordination. Based on the information from the control. It is a non-specific clinical manifestation vestibular, visual, somatosensory systems and implying dysfunction of the cerebellum and/or its cerebral cortex, the cerebellum establishes postural connections such as the proprioceptive, visual, control, coordinated and balanced movement by vestibular systems and interconnections of these making the appropriate adjustments. The systems. Several different possible causes exist for vestibulocerebellum accomplishes eye movements these patterns of neurological dysfunction (1, 2). In and balance through vestibuloocular, vestibulospinal this review, the neuroanatomic basis, types, causes, and reticulospinal tracts by modulating the and treatment of ataxia are discussed in the light of information in the vestibular and the reticular nuclei. the literature. The spinocerebellum receives proprioceptive The articles and abstracts for this review were sensory inputs from the periphery, and regulates found by searching in Medline/Pubmed. A Medline body and limb movements, and contributes to literature search was conducted with the terms locomotion, balance and tonus. The “ataxia and pathogenesis”, “types of ataxia” , cerebrocerebellum is interconnected with the “cerebellar ataxia”, “vestibular ataxia”, “causes of cerebral cortex, and it is involved in planning ataxia”, and “treatment of ataxia”. Additional movements and evaluating sensory information for articles were obtained from the reference lists of action, enabling fine, coordinated distal movement. retrieved articles. All journal articles reviewed were On the other hand, the cerebrocerebellum written in English. participates not only in motor control, but also in emotion and cognition. So, the cerebellum is involved in maintenance of balance and posture, Adres / Correspondence : Anıl Tanburoğlu control of eye movements, planning and execution Başkent University, Adana Dr. Turgut Noyan Training and Research of coordinated limb movements, adjustments of Center Neurology Clinic Adana, Turkey e-posta / e-mail : [email protected] motor performance, learning new motor tasks, 32 Muğla Sıtkı Koçman Üniversitesi Tıp Dergisi 2017;4(2):32-39 Derleme/Review Medical Journal of Mugla Sitki Kocman University 2017;4(2):32-39 Tanburoğlu and Karataş cognitive functions and neuroimmunomodulation. inability to suppress the vestibulo-ocular reflex and The lesion on the cerebellum and/or its connections abnormalities of optokinetic nystagmus are also causes ataxia, abnormal eye movements, dysmetria, noticed (7). Dysfunction of the spinocerebellum dyssynergia, dysarthria, tremor, hypotonia, (vermis and paravermis) presents itself with a wide- prolonged reaction time, and cognitive impairment based "drunken sailor" gait called as truncal ataxia, called as "dysmetria of thought" (2-5). characterized by uncertain starts and stops, lateral deviations, and unequal steps, and gait ataxia (8). Types of Ataxia Dysfunction of the cerebrocerebellum presents as disturbances in carrying out voluntary, planned Ataxia can result from damage to the cerebellum, movements by the extremities. These include: proprioceptive, vestibular and visual systems, and/or intentional tremor, writing abnormalities, dysarthria, any interconnections of these systems. Although dysmetria, abnormality in alternating movements, there is no consensus on classification of ataxias in loss of the check reflex, and hypotonia. Intention literature, based on involvement of system, types of tremor is a kinetic tremor characterized by a broad, ataxias are classified as below: course, and low frequency (below 5 Hz) tremor. The 1. Cerebellar ataxia amplitude of an intention tremor increases as an 2. Vestibular ataxia extremity approaches the endpoint of deliberate and 3. Sensory ataxia visually guided movement. Intention tremor is the 4. Frontal ataxia result of dysfunction of the lateral zone of the 5. Ataxic-hemiparesis cerebellum, and superior cerebellar peduncle. 6. Optic ataxia Intention tremors can also be seen as a result of 7. Visual ataxia damage to the brainstem or thalamus. Depending on 8. Mixed ataxia the location of cerebellar damage, these tremors can be either unilateral or bilateral. Kinetic and postural Cerebellar Ataxia tremors or titubations also occur in cerebellar diseases. There are also writing abnormalities in The term cerebellar ataxia is used to indicate cerebellar ataxia characterized by large, unequal ataxia due to dysfunction of the cerebellum. letters, and irregular underlining. Cerebellar Cerebellar dysfunctions are characterized by ataxia, dysarthria is characterized by slurred, monotonous hypotonia, asynergy, dysmetria, dyschronometria, or scanning speech. Dysmetria is inability to judge nystagmus, dysdiadochokinesia, tremor, and distances or ranges of movement, as undershooting cognitive dysfunction. How and where these (hypometria), or overshooting (hypermetria), the abnormalities manifest themselves depends on required distance or range to reach a target. which cerebellar structures, such as Decomposition of alternating movements known as vestibulocerebellum, spinocerebellum or asynergia or dyssynergia refers to errors in the cerebrocerebellum, have been damaged (Table 1) sequence and speed of the component parts of a (6). movement. Dysdiadochokinesia can involve rapid switching from pronation to supination of the Table 1. Signs and lesion localization in cerebellar forearm. Bradyteleokinesia describes terminal disorders slowing while reaching the target. The rebound phenomenon is also sometimes seen in patients with Cerebellar lesion Signs Archicerebellum Eye movement disorders, cerebellar ataxia. Hypotonia and hyporeflexia, Posterior (flocculo- nystagmus, vestibulo-ocular pendular tendon reflexes are also seen in acute nodular lobe) reflex (VOR) dysfunction, cerebellar lesion (2,6,8). postural and gait dysfunction
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