TABLE 1.

Disorders with movement abnormalities and hematologic involvement

Disorder	Etiology	Hematologic manifestations	Movement disorder & neurologic manifestations
Disorders of red blood cells
Abetalipoproteinemia	MTP gene mutation	Acanthocytes, coagulopathy (due to vitamin K deficiency)	Ataxia, vibratory and proprioception loss, hyporeflexia, myopathy, ophthalmologic problems (neurologic symptoms are similar to vitamin E deficiency)
Huntington disease like‐2	JPH3 trinucleotide repeat expansion	Acanthocytes	Chorea, dystonia, myoclonus, parkinsonism, neuropsychiatric disorder
Infantile tremor syndrome	Possibly nutritional deficiency	Anemia	Self‐limiting episode of neuromotor regression, course body tremors and hypotonia
Neuroacanthocytosis	VPS13A mutation (chorea‐acanthocytosis); X‐linked XK mutation (Mcleod syndrome)	Acanthocytes, hepatosplenomegaly	Chorea, dystonia, psychiatric and cognitive dysfunction, myopathy, seizures
X‐linked sideroblastic anemia and ataxia	X‐linked mutation in ABCB7 gene	Ringed sideroblasts, iron inclusions in mature RBCs, microcytic and hypochromic anemia	Early‐onset ataxia, tremor, pyramidal signs
Paroxysmal exertion‐induced dyskinesia	Sporadic or genetic (eg GLUT‐1 deficiency)	Hemolytic anemia, macrocytic anemia, echinocytes	Lower limb dystonia and choreoathetiotic movements precipitated by exercise, ataxia, epilepsy
Paroxysmal nocturnal hemoglobinuria	PIGA mutation	Chronic anemia; episodes of hemolytic anemia with systemic stress	Episodes of smooth muscle dystonia including abdominal or back pain, esophageal spasm, and erectile dysfunction
Parkinson's disease	Idiopathic	Anemia	Bradykinesia, rigidity, postural instability, resting tremor
Restless leg syndrome	Idiopathic; sometimes caused be iron deficiency anemia	Iron deficiency anemia, low ferritin and TIBC	Uncontrollable urge to move legs, associated with uncomfortable sensation
Vitamin B12 deficiency	Acquired, multiple causes	Megaloblastic anemia; rare hemolysis and pancytopenia	Ataxia, myelopathy, dorsal column dysfunction, neuropathy, cognitive impairment
Vitamin E deficiency	Acquired, multiple causes	Hemolytic anemia	Ataxia, weakness, hyporeflexia, cranial neuropathies, cognitive impairment, retinitis pigmentosa
Disorders of white blood cells
Chediak‐Higashi Syndrome	LYST or CHS1 mutation	Neutropenia, anemia, thrombocytopenia, giant inclusion bodies (granules) in leukocytes, fulminant hemophagocytic syndrome	Neurodevelopmental delay, neuropathy, spasticity, dystonia, parkinsonism, ataxia, epilepsy
Clozapine‐induced leukopenia	Chronic clozapine use	Agranulocytosis	N/A
Ataxia‐telangiectasia	ATM mutation	Lymphopenia, low Ig levels, increased risk for leukemia/lymphoma	Ataxia, oculomotor apraxia, chorea, cognitive impairment, parkinsonism, dystonia, pyramidal signs
Copper deficiency	Acquired, multiple causes	Leukopenia, anemia; cytoplasmic vacuolization within precursor cells	Spastic‐ataxic gait, myelopathy, neuropathy, motor neuron disease
Disorders of bleeding and clotting
Antiphospholipid syndrome	Autoimmune	Thrombocytopenia, bone marrow necrosis, thrombotic microangiopathic syndromes	Chorea, dystonia, and other movement disorders; often associated with thrombo‐occlusive event
Hemolytic uremic syndrome	Toxic/peri‐infectious	Thrombocytopenia, thrombotic microangiopathy	Ataxia, dystonia, encephalopathy, diplopia, weakness
Polycythemia vera	JAK2 mutation	Polycythemia, thrombosis due to hyperviscosity	Chorea and other hyperkinetic movements
Sickle cell disease	Mutation in beta‐globulin subunit in hemoglobin‐beta gene	Sickle shape RBC, chronic anemia, episodes of acute vaso‐occlusive and hemolytic crises	Periodic leg movements of sleep, acute stroke syndromes, chorea
Hematologic malignancies
Ataxia‐pancytopenia syndrome	SAMD9L/SAMD9 mutation	Cytopenias, anemia, immunodeficiency, hypoplastic bone marrow, myelodysplasia	Ataxia, nystagmus, hyperreflexia, abnormal gait, cognitive impairment; MIRAGE syndrome is more severe phenotype
Leukopenia and lymphoma	Varies, often idiopathic	Varies depending on the type of malignancy	Rare ataxia, parkinsonism, encephalopathy, and hyperkinetic movements
Paraproteinemias	Autoimmune or idiopathic	Monoclonal gammopathy	Ataxia, tremor, peripheral neuropathy, cranial neuropathies
Storage disorders or disorders of metal metabolism
Gaucher disease	GBA mutation	Anemia, thrombocytopenia, hepatosplenomegaly, increased risk for hematologic malignancies	Parkinsonism, slow horizonal saccades, severe neurodegeneration subtype (type 2)
Neimann‐Pick disease type C	NPC1 or NPC2 mutation	Anemia	Vertical supranuclear gaze palsy, parkinsonism, ataxia, gelastic cataplexy, psychiatric disorder
Hypermanganesemia with dystonia	SLC30A10 or SCL39A14 mutation	Polycythemia	Dystonia, parkinsonism
Hematochromatosis	C282Y or other gene mutation	Elevated serum ferritin, iron and TIBC	Rare parkinsonism, chorea, myoclonus, ataxia, dystonia, tremor
Neurodegeneration with brain iron accumulation	Multiple gene mutations	‐Neuroferrinitinopathy: low ferritin ‐Aceruloplasminemia: low ceruloplasmin, microcytic anemia, elevated ferritin ‐PKAN: acanthocytes ‐HARP: acanthocytes ‐FHAN: PAS‐positive granular inclusions in bone marrow biopsy	Dystonia, dysarthria, spasticity, parkinsonism, neuropsychiatric problems, optic atrophy or retinal degeneration
Wilson's disease	ATP7B mutation	Thrombocytopenia, leukopenia, rare hemolytic anemia	Tremor, dystonia, parkinsonism, dysarthria, orofacial dyskinesias, ataxia, pyramidal signs, seizures, neuropsychiatric symptoms