Cerebellar ataxia as the first manifestation of Alexander's disease

Rezende, Sheyla Ariêh de Souza; Fernandes, Maurício; Munhoz, Renato P.; Raskin, Salmo; Schelp, Arthur Oscar; Knaap, Marjo S. van der; Teive, Hélio A.G.

doi:10.1590/s0004-282x2012000400018

Cited by 6 publications

(2 citation statements)

References 4 publications

(15 reference statements)

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“…All the members of the family were heterozygous carriers of M451I (c.1245G>A) mutation, which has been previously reported in the literature (7). The signs and symptoms of our cases reveal some similarities with gait instability as the presenting symptom in all three patients.…”

Section: Discussionsupporting

confidence: 79%

Familial Adult-onset Alexander Disease: Clinical and Neuroradiological Findings of Three Cases

Elmalı

Çetinçelik²,

Işlak

et al. 2016

Arch Neuropsychiatr

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The adult-onset Alexander disease (AOAD) dramatically differs from the early onset AD with respect to clinical and neuroradiological findings. Herein we report the detailed clinical and neuroradiological findings of a Turkish family with AOAD. In all three cases, magnetic resonance imaging revealed marked atrophy of the mesencephalon, bulbus, and cervical spinal cord accompanied with signal abnormalities in the same regions along with supratentorial white matter. Basal ganglia were affected in two cases. Molecular genetic analysis revealed heterozygous mutation in the 8th exon of the glial fibrillary acidic protein gene M451I (c.1245G>A), leading to the diagnosis of AOAD in all cases.

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Section: Discussionsupporting

confidence: 79%

Familial Adult-onset Alexander Disease: Clinical and Neuroradiological Findings of Three Cases

Elmalı

Çetinçelik²,

Işlak

et al. 2016

Arch Neuropsychiatr

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“…The disease is caused by glial fibrillary acidic protein (GFAP) gene mutation. Spinal cord and medulla ablongata atrophy are typical neuroimaging features 54 .…”

Section: Adult-onset Alexander Diseasementioning

confidence: 99%

Adult onset sporadic ataxias: a diagnostic challenge

Barsottini

Albuquerque

Neto

et al. 2014

Arq. Neuro-Psiquiatr.

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Patients with adult onset non-familial progressive ataxia are classified in sporadic ataxia group. There are several disease categories that may manifest with sporadic ataxia: toxic causes, immune-mediated ataxias, vitamin deficiency, infectious diseases, degenerative disorders and even genetic conditions. Considering heterogeneity in the clinical spectrum of sporadic ataxias, the correct diagnosis remains a clinical challenge. In this review, the different disease categories that lead to sporadic ataxia with adult onset are discussed with special emphasis on their clinical and neuroimaging features, and diagnostic criteria.Keywords: ataxia, sporadic ataxia, clinical features, diagnostic criteria. RESUMOPacientes com ataxia progressiva que se inicia na idade adulta, e sem histórico familiar da doença, são classificados no grupo das ataxias esporádicas. Existem várias categorias de doenças que podem se manifestar com ataxia esporádica, tais como: causas tóxicas, ataxias imunomediadas, deficiência de vitaminas, doenças infecciosas, doenças degenerativas e até mesmo condições genéticas. Considerando a heterogeneidade no espectro clínico das ataxias esporádicas, a definição da etiologia constitui um desafio diagnóstico. Neste artigo de revisão, realizamos uma discussão sobre as diferentes categorias de doenças que causam ataxia com início na idade adulta sem histórico familiar, com ênfase nas características clínicas, aspectos de imagem e critérios diagnósticos.Palavras-chave: ataxia, ataxias esporádicas, aspectos clínicos, critérios diagnósticos.

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Metabolic ataxias

Ismail

Mitoma

Fatemi

2018

The Cerebellum: Disorders and Treatment

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The nervous system is vulnerable to intrinsic and extrinsic metabolic perturbations. In particular, the cerebellum, with its large Purkinje cells and its high density of neurons and glial cells, has high metabolic demand and is highly vulnerable to metabolic derangements. As a result, many disorders of intermediary metabolism will preferentially and sometimes selectively target the cerebellum. However, many of these disorders present in a multisystem fashion with ataxia being a part of the neurologic symptom complex. The presentation of these disorders depends on the time of onset and type of metabolic derangement. Early infantile or intrauterine-onset diseases will present in a young child typically with global hypotonia and both nystagmus and ataxia become more apparent later in life, while later-onset diseases usually present primarily with ataxia. It is important to note that the majority of these disorders are progressive if they are untreated. This chapter provides a review of acquired and genetic metabolic disorders that target the cerebellum, and discusses their diagnostic evaluation and therapy.

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Cerebellar ataxia as the first manifestation of Alexander's disease

Cited by 6 publications

References 4 publications

Familial Adult-onset Alexander Disease: Clinical and Neuroradiological Findings of Three Cases

Familial Adult-onset Alexander Disease: Clinical and Neuroradiological Findings of Three Cases

Adult onset sporadic ataxias: a diagnostic challenge

Metabolic ataxias

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