2015
DOI: 10.14802/jmd.15009
|View full text |Cite
|
Sign up to set email alerts
|

Untangling the Thorns: Advances in the Neuroacanthocytosis Syndromes

Abstract: There have been significant advances in neuroacanthocytosis (NA) syndromes in the past 20 years, however, confusion still exists regarding the precise nature of these disorders and the correct nomenclature. This article seeks to clarify these issues and to summarise the recent literature in the field. The four key NA syndromes are described here–chorea-acanthocytosis, McLeod syndrome, Huntington’s disease-like 2, and pantothenate kinase- associated neurodegeneration. In the first two, acanthocytosis is a frequ… Show more

Help me understand this report

Search citation statements

Order By: Relevance

Paper Sections

Select...
3
2

Citation Types

0
64
0

Year Published

2016
2016
2022
2022

Publication Types

Select...
6

Relationship

0
6

Authors

Journals

citations
Cited by 54 publications
(64 citation statements)
references
References 163 publications
0
64
0
Order By: Relevance
“…Vocal tics consisting of gasping, sighing, whistling, blowing, sucking, and humming occur in most of patients (1,2).…”
Section: Discussionmentioning
confidence: 99%
See 4 more Smart Citations
“…Vocal tics consisting of gasping, sighing, whistling, blowing, sucking, and humming occur in most of patients (1,2).…”
Section: Discussionmentioning
confidence: 99%
“…Generalized tonicclonic or partial complex seizures occur in half of patients; some patients develop epilepsy as their initial clinical manifestation (1,2). In many patients, seizures are found to originate from one or both temporal lobes (1,2). Neuropathy is often subclinical, manifesting with distal muscle wasting, depressed distal deep tendon reflexes, and mild sensory abnormalities, particularly impaired vibration sense (3,4).…”
Section: Discussionmentioning
confidence: 99%
See 3 more Smart Citations