Evidence map›Paper›PMID 37596043›Full record

ReviewNeurology2023

Clinical Reasoning: A 48-Year-Old Man With Spasticity and Progressive Ataxia.

Joaquin A Vizcarra, Rachel A Paul, Ali G Hamedani, David R Lynch, Whitley W Aamodt

Open access · greenAbstract readCase ReportsReview
PubMed Full text at PMC Publisher
In one paragraph

Review in Neurology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact, top 84% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed, 0 citations in OpenAlex.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

5 authors at 1 institution in 1 country.

Joaquin A VizcarraFrom the Department of Neurology (J.A.V.), Emory University School of Medicine, Atlanta; Departments of Neurology (R.A.P., A.G.H., D.R.L., W.W.A.) and Ophthalmology (A.G.H.), University of Pennsylvania Perelman School of Medicine, Philadelphia; and Division of Neurology (D.R.L.), Department of Pediatrics, Children's Hospital of Philadelphia, PA.ORCID 0000-0003-0306-4774
Rachel A PaulFrom the Department of Neurology (J.A.V.), Emory University School of Medicine, Atlanta; Departments of Neurology (R.A.P., A.G.H., D.R.L., W.W.A.) and Ophthalmology (A.G.H.), University of Pennsylvania Perelman School of Medicine, Philadelphia; and Division of Neurology (D.R.L.), Department of Pediatrics, Children's Hospital of Philadelphia, PA.
Ali G HamedaniFrom the Department of Neurology (J.A.V.), Emory University School of Medicine, Atlanta; Departments of Neurology (R.A.P., A.G.H., D.R.L., W.W.A.) and Ophthalmology (A.G.H.), University of Pennsylvania Perelman School of Medicine, Philadelphia; and Division of Neurology (D.R.L.), Department of Pediatrics, Children's Hospital of Philadelphia, PA.
David R LynchFrom the Department of Neurology (J.A.V.), Emory University School of Medicine, Atlanta; Departments of Neurology (R.A.P., A.G.H., D.R.L., W.W.A.) and Ophthalmology (A.G.H.), University of Pennsylvania Perelman School of Medicine, Philadelphia; and Division of Neurology (D.R.L.), Department of Pediatrics, Children's Hospital of Philadelphia, PA.ORCID 0000-0001-7168-214X
Whitley W AamodtFrom the Department of Neurology (J.A.V.), Emory University School of Medicine, Atlanta; Departments of Neurology (R.A.P., A.G.H., D.R.L., W.W.A.) and Ophthalmology (A.G.H.), University of Pennsylvania Perelman School of Medicine, Philadelphia; and Division of Neurology (D.R.L.), Department of Pediatrics, Children's Hospital of Philadelphia, PA. whitley.aamodt@pennmedicine.upenn.edu.
Children's Hospital of Philadelphia · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

A 48-year-old man was referred to the movement disorders clinic for 10 years of progressive slurred speech, spasticity, limb incoordination, and wide-based gait. Extensive neurologic workup was inconclusive, including serum and CSF testing, neuroimaging, EMG/NCS, exome sequencing, and mitochondrial testing. An ataxia repeat expansion panel ultimately revealed the final diagnosis. In this report, we review the clinical characteristics of a rare, late-onset, autosomal recessive cerebellar ataxia and discuss the importance of pursuing targeted gene testing to avoid diagnostic delays, especially as new treatments for this and other genetic diseases become available.

Indexed as

Cerebellar AtaxiaSpinocerebellar DegenerationsAtaxiaClinical ReasoningHumansMaleMiddle AgedMuscle Spasticity

Identifiers

PMID37596043
PMCPMC10624484
OpenAlexW4385970877

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.