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


CONCLUSIONS
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).
Neurology Department, St Adalbert Hospital Copernicus PL, Gdansk, Poland. Electronic address: jaroslawdulski@gmail.com.
J
J
Dulski
Neurology Department, St Adalbert Hospital Copernicus PL, Gdansk, Poland.
W
W
Sołtan
Neurology Department, St Adalbert Hospital Copernicus PL, Gdansk, Poland; Neurological and Psychiatric Nursing Department, Medical University of Gdansk, Gdansk, Poland.
M
M
Schinwelski
Neurology Department, Faculty of Medicine, Medical University of Silesia, Poland.
M
M
Rudzińska
Neurology Department, Krakow University Hospital, Krakow, Poland.
M
M
Wójcik-Pędziwiatr
Lund University, Department of Clinical Sciences, Lund, Neurology, and Department of Neurology, Skåne University Hospital, Lund, Sweden.
L
L
Wictor
Section for Neurology, Department of Internal Medicine, Central Hospital, Växjö, Sweden.
F
F
Schön
Lund University, Department of Clinical Sciences, Lund, Neurology, and Department of Neurology, Skåne University Hospital, Lund, Sweden.
A
A
Puschmann
Department of Neurology and Center of Clinical Neuroscience, Charles University in Prague, 1st Faculty of Medicine and General University Hospital in Prague, Czech Republic.
J
J
Klempíř
Institute for Transfusion Sciences and International Blood Group Reference Laboratory, Bristol, United Kingdom.
L
L
Tilley
Department of Neurology and Center of Clinical Neuroscience, Charles University in Prague, 1st Faculty of Medicine and General University Hospital in Prague, Czech Republic.
J
J
Roth
Department of Neurology, Mayo Clinic Florida, Jacksonville, FL, USA.
P
P
Tacik
Department of Neurology, Mayo Clinic Florida, Jacksonville, FL, USA; Department of Neurology, Fukuoka University, Fukuoka, Japan.
S
S
Fujioka
Neurology Department, Medical University of Bialystok, Bialystok, Poland.
W
W
Drozdowski
Neurology Department, St Adalbert Hospital Copernicus PL, Gdansk, Poland; Neurological and Psychiatric Nursing Department, Medical University of Gdansk, Gdansk, Poland.
E J
EJ
Sitek
Department of Neurology, Mayo Clinic Florida, Jacksonville, FL, USA.
Z
Z
Wszolek
Neurology Department, St Adalbert Hospital Copernicus PL, Gdansk, Poland; Neurological and Psychiatric Nursing Department, Medical University of Gdansk, Gdansk, Poland.
J
J
Sławek
D000328:Adult; D005500:Follow-Up Studies; D006801:Humans; D008297:Male; D008875:Middle Aged; D054546:Neuroacanthocytosis / Q000175:diagnosis* / Q000503:physiopathology
Acanthocytes; Chorea; McLeod syndrome; Neuroacanthocytosis