Emerging topics in FXTAS

Hall, Deborah A.; Birch, Rachael C; Anheim, Mathieu; Jønch, Aia Elise; Pintado, Elizabeth; O’Keefe, Joanne; Trollor, Julian N.; Stebbins, Glenn T.; Hagerman, Randi J; Fahn, Stanley; Berry‐Kravis, Elizabeth; Leehey, Maureen A.

doi:10.1186/1866-1955-6-31

Cited by 81 publications

(78 citation statements)

References 64 publications

(86 reference statements)

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“…In our series, 55 % of patients had polyneuropathy, which is close to other studies [17] and supports polyneuropathy as minor FXTAS clinical criteria [11]. Indeed, polyneuropathy may be the first sign of the disease [17].…”

Section: Discussionsupporting

confidence: 90%

“…With respect to the clinical, radiological and molecular findings, the diagnosis of FXTAS was established according to the initial FXTAS diagnostic category [2,8] (with MCP and/or brainstem hyperintensity as the only major radiological criterion) as well as according to the recently proposed new diagnosis criteria taking into account CCS hyperintensity as an additional major radiological criteria [10,11].…”

Section: Fxtas Diagnostic Categorymentioning

confidence: 99%

“…Three patients did not meet the criteria of possible FXTAS (2 men and one woman) even if they had both neurological signs that may be encountered in FXTAS (cognitive decline and/or fibromyalgia for instance) [2], abnormal MRI findings (CSS or MCP hyperintensity) and FMR1 premutation. Considering CCS hyperintensity as a new major clinical sign [11], the diagnosis of FXTAS was definite in 17 patients (15 men and 2 women), probable in 2 patients (2 women), possible for no patients. Two men and one woman still could not meet the criteria for possible FXTAS.…”

Section: Demographics and Clinical Characteristicsmentioning

confidence: 99%

“…More recently, the criteria for the diagnosis of FXTAS have been revised by an expert group, including CCS as an additional major radiological criterion [11]. Our aim here is to report a practical justification of the relevance of CCS hyperintensity in parallel with MCP hyperintensity for the diagnosis of FXTAS in a new cohort of patients, to support the revision of the diagnosis criteria for FXTAS and to better define the value of the CCS sign.…”

Section: Introductionmentioning

confidence: 97%

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Relevance of corpus callosum splenium versus middle cerebellar peduncle hyperintensity for FXTAS diagnosis in clinical practice

et al. 2014

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Fragile X-associated tremor ataxia syndrome (FXTAS) is caused by FMR1 premutation. The features include ataxia, action tremor and middle cerebellar peduncle (MCP) hyperintensity, the latter being the only major radiological criterion in the diagnosis of definite FXTAS until very recently. The importance of corpus callosum splenium (CCS) hyperintensity was recently reported and this sign is now considered as an additional major radiological diagnostic criterion in the diagnosis of FXTAS. However, little is known about its relevance for the diagnosis of FXTAS in clinical practice. We report a practical justification of the relevance of CCS hyperintensity in parallel with MCP hyperintensity for the diagnosis of FXTAS. Clinical and radiological study of 22 FMR1 premutation carriers with neurological signs that may be encountered in FXTAS compared to series of patients with essential tremor, multiple system atrophy of cerebellar type, Parkinson's disease, Alzheimer's disease and stroke. Among the 22 patients with FMR1 premutation [17 men, 5 women; mean age, 63 ± 7.5 (46-84)], 14 were diagnosed with definite FXTAS with the initial criteria. Considering CCS hyperintensity as a new major radiological criterion permitted the diagnosis of definite FXTAS in 3 additional patients. Overall CCS proved as frequent as MCP hyperintensity (64 versus 64 %), while 23 % of patients had CCS but not MCP hyperintensity, 14 % of patients had CCS hyperintensity but neither MCP, nor brainstem hyperintensity. In contrast with CCS hyperintensity, MCP hyperintensity proved less frequent in women than in men.M. Renaud and J. Perriard contributed equally to this manuscript and should be considered as first author. 435-442 DOI 10.1007/s00415-014-7557-7 CCS and MCP hyperintensity were more frequent in FXTAS than in the other neurodegenerative disorders. The combination of CCS and MCP hyperintensity was specific of FXTAS. We confirmed the relevance of CCS hyperintensity in FXTAS and we clarified its interest compared to MCP hyperintensity. Our results support the inclusion of CCS hyperintensity in the diagnostic criteria as a new major radiological criterion.

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Section: Discussionsupporting

confidence: 90%

Section: Fxtas Diagnostic Categorymentioning

confidence: 99%

Section: Demographics and Clinical Characteristicsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 97%

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Relevance of corpus callosum splenium versus middle cerebellar peduncle hyperintensity for FXTAS diagnosis in clinical practice

et al. 2014

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“…The revised FXTAS diagnostic criteria include two major radiological features (Table 1) [3]. The ''MCP sign", referring to T2 hyperintensity in the middle cerebellar peduncle, has long been considered the radiological hallmark of FXTAS.…”

Section: Discussionmentioning

confidence: 99%

Fragile X-associated tremor/ataxia syndrome: An under-recognised cause of tremor and ataxia

Kalus

King

Lui

et al. 2016

Journal of Clinical Neuroscience

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Action Tremor, Impaired Balance, and Executive Dysfunction in Midlife

Birch

Trollor

2017

JAMA Neurol

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A 58-year-old man presented with a 1-year history of severe and progressive action tremor in his dominant hand when writing. When questioned, he described subtle balance problems without falls developing over the past 3 years. With the exception of profound difficulties with handwriting, motor symptoms did not affect livelihood or activities of daily living. There was no tremor reported in the nondominant hand or other limbs or symptoms of autonomic dysfunction. Neither he nor his wife reported any changes in cognitive function. His medical history comprised surgeries of the hand (laceration repair), leg (fracture repair), knee (reconstruction), and ear (stapedectomy); these were not related to the presenting symptoms. He had a family history of ischemic heart disease (both parents) but no family history of neurological disorder. He exercised regularly (5 times per week) and consumed 2 to 4 standard drinks per week. He was a former smoker with a 2-year pack history and denied any illicit drug use.Cognitive testing revealed deficits in executive function and speed of information processing. Examination of eye movements and speech revealed jerky eye pursuit, saccadic dysmetria, and moderate slurring of speech. Additional motor signs included abnormal handwriting (Figure 1A), bilateral intention tremor, mild rigidity (upper extremities), and moderately impaired heel tapping. Facial expression was normal. There was no head or resting tremor. He demonstrated moderate body sway while standing, was unable to stand on 1 foot for more than 10 seconds, and had impaired tandem walking. Gait, posture, and walking capacities during a timed 6-m walk were normal.Routine blood test results were normal. Brain magnetic resonance imaging showed moderate volume loss in the cerebral hemispheres bilaterally as well as the cerebellum and brainstem. Abnormal signal intensity was noted in the cerebral hemispheric white matter bilaterally, the middle cerebellar peduncles (Figure 1B), the cerebellar white matter, and the pons.

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Emerging topics in FXTAS

Abstract: This paper summarizes key emerging issues in fragile X-associated tremor/ataxia syndrome (FXTAS) as presented at the First International Conference on the FMR1 Premutation: Basic Mechanisms & Clinical Involvement in 2013.

Cited by 81 publications

References 64 publications

Relevance of corpus callosum splenium versus middle cerebellar peduncle hyperintensity for FXTAS diagnosis in clinical practice

Relevance of corpus callosum splenium versus middle cerebellar peduncle hyperintensity for FXTAS diagnosis in clinical practice

Fragile X-associated tremor/ataxia syndrome: An under-recognised cause of tremor and ataxia

Action Tremor, Impaired Balance, and Executive Dysfunction in Midlife

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