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Clinical variability of neuroacanthocytosis syndromes-a series of six patients with long follow-up.

Abstract：

OBJECTIVE:To provide clinical clues to differential diagnosis in patients with chorea and other movement disorders with blood acanthocytes. METHODS:We present a long-term video accompanied follow-up of six Caucasian patients with neuroacanthocytosis from several centers, three diagnosed with chorea-acanthocytosis (ChAc): 34-y.o.(no.1), 36-y.o.(no.2), 43-y.o.(no.3), two diagnosed with McLeod Syndrome (MLS): 52-y.o.(no.4), 61-y.o.(no.5) and one 63-y.o.(no.6), a brother of no.5, with clinical suspicion of MLS. Additionally we report pathological findings of the mother of two brothers with MLS reported in our series with acanthocytes on peripheral blood smear RESULTS:The patients had an unremarkable family history and were asymptomatic until adulthood. Patients no. 1,2,4,5,6 developed generalized chorea and patient no. 3 had predominant bradykinesia. Patients no. 1,2,3 had phonic and motor tics, additionally patients no. 1 and 2 exhibited peculiar oromandibular dystonia with tongue thrusting. In patients no. 2 and 3 dystonic supination of feet was observed, patient no. 3 subsequently developed bilateral foot drop. Patients no. 2 and 4 had signs of muscle atrophy. Tendon reflexes were decreased or absent and electroneurography demonstrated sensorimotor neuropathy in patients no. 1,2,3,4,5, except no. 6. Generalized seizures were seen in patients no. 2,3,5,6 and myoclonic jerks in patient no. 1. Cognitive deterioration was reported in patients no. 1,2,3,5,6. Serum creatine kinase levels were elevated in all six patients. CONCLUSION:We highlight the variability of clinical presentation of neuroacanthocytosis syndromes and the long time from the onset to diagnosis with the need to screen the blood smears in uncertain cases, however, as in one of our cases acanthocytes may even be not found. Based on our observations and data from the literature we propose several red flags that should raise the suspicion of an NA syndrome in a patient with a movement disorder: severe orofacial dyskinesia with tongue and lip-biting (typical of ChAc), feeding dystonia, psychiatric and cognitive disturbances, seizures, peripheral neuropathy, elevation of creatine kinase, elevation of transaminases, hepatosplenomegaly, cardiomyopathy and arrhythmias, and an X-linked pattern of inheritance (McLeod Syndrome, MLS).

journal_name

Clin Neurol Neurosurg

journal_title

Clinical neurology and neurosurgery

authors

Dulski J,Sołtan W,Schinwelski M,Rudzińska M,Wójcik-Pędziwiatr M,Wictor L,Schön F,Puschmann A,Klempíř J,Tilley L,Roth J,Tacik P,Fujioka S,Drozdowski W,Sitek EJ,Wszolek Z,Sławek J

doi

10.1016/j.clineuro.2016.05.028

subject

Has Abstract

pub_date

2016-08-01 00:00:00

pages

78-83

eissn

0303-8467

issn

1872-6968

pii

S0303-8467(16)30212-8

journal_volume

147

pub_type

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Clinical variability of neuroacanthocytosis syndromes-a series of six patients with long follow-up.