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Degenerative and acquired sporadic adult onset ataxia

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Abstract

The diagnosis of sporadic adult onset ataxia is a challenging task since a large collection of hereditary and non-hereditary disorders should be taken into consideration. Sporadic adult onset ataxias include degenerative non-hereditary, hereditary, and acquired ataxias. Multiple system atrophy and idiopathic late cerebellar ataxia are degenerative non-hereditary ataxias. Late-onset Friedreich’s ataxia, spinocerebellar ataxia type 6 and 2, and fragile X-associated tremor/ataxia syndrome account for most sporadic hereditary ataxias. Alcoholic cerebellar degeneration, paraneoplastic and other autoimmune cerebellar degeneration, vitamin deficiencies, and toxic-induced and infectious cerebellar syndrome are the main causes of acquired cerebellar degeneration. The diagnostic approach should include a history taking, disease progression, general and neurological examination, brain MRI, and laboratory and genetic tests. Novel opportunities in massive gene sequencing will increase the likelihood to define true etiologies.

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Abbreviations

ACD:

Alcoholic cerebellar degeneration

ARCA1:

Autosomal recessive cerebellar ataxia type 1

FXTAS:

Fragile X-associated tremor/ataxia syndrome

GAD:

Glutamic acid decarboxylase

GBCA:

Gadolinium-based contrast agent

ILOCA:

Idiopathic late-onset cerebellar ataxia

MIRAS:

Mitochondrial recessive ataxia syndrome

MSA-C:

Multiple system atrophy cerebellar type

PCD:

Paraneoplastic cerebellar degeneration

SAOA:

Sporadic adult onset ataxia

sCJD:

Sporadic Creutzfeldt-Jacob disease

SCA:

Spinocerebellar ataxia

SCLC:

Small cell lung cancer

SREAT:

Steroid-responsive encephalopathy associated with autoimmune thyroiditis

TOICS:

Toxic-induced cerebellar syndrome

WE:

Wernicke encephalopathy

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Authors and Affiliations

  1. Department of Neurosciences, Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy

    Maria Lieto, Alessandro Roca, Tommasina Fico, Giovanna De Michele, Marta Bellofatto, Francesco Saccà, Giuseppe De Michele & Alessandro Filla

  2. Molecular Medicine, IRCCS, Fondazione Stella Maris, Pisa, Italy

    Filippo Maria Santorelli

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  1. Maria Lieto
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Correspondence to Alessandro Filla.

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Lieto, M., Roca, A., Santorelli, F.M. et al. Degenerative and acquired sporadic adult onset ataxia. Neurol Sci 40, 1335–1342 (2019). https://doi.org/10.1007/s10072-019-03856-w

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