Table 1.
Main clinical and neuroimaging features of IBGC families
| IBGC family | Geographic origin/descent | N. of available members | Affected | Unaffected | Unknown | Clinical symptoms | Diagnostic workup | Calcifications | Reference |
|---|---|---|---|---|---|---|---|---|---|
| F1 | North American | 31 | 11 | 7 | 13 | Parkinsonism, focal dystonia, tremor, and dysphagia | Serum calcium and PTH | +++ (BBG, globus pallidus, thalamus, white matter) | [7] |
| F2 | European | 30 | 10 | 6 | 14 | 8 individuals normal neurological, cognitive, psychiatric features; 2 individuals dementia, parkinsonism, bipolar I | Dense calcification in at least one area | [3] | |
| F3 | 30 | 7 | 5 | 18 | Parkinsonism, dizziness, slurred speech, and balance disorder | Serum calcium and PTH | NP | ||
| F4 | North American/Swedish | 17 | 10 | 3 | 4 | Dementia, chorea, slurred speech, palilalia, gait disturbance, 5 asymptomatic | Serum calcium and PTH | +++ (BBG, white matter, cerebellum) | [15] |
| F5 | North American/Irish | 16 | 10 | 2 | 4 | Parkinsonism and dystonia, 3 asymptomatic | Serum calcium and PTH | +++ (BBG, thalamus, white matter) | [15] |
| F6 | Serbian | 14 | 6 | 8 | 0 | Parkinsonism, severe gait disturbances with freezing of gait, and dyskinesia; 2 asymptomatic | [16] | ||
| F7 | 12 | 6 | 0 | 6 | Cramps and headaches | Serum calcium and PTH | NP | ||
| F8 | German | 10 | 6 | 1 | 3 | Dizziness, epilepsy, headaches | Serum calcium and PTH | +++ (BBG) | [15] |
| F9 | North American/Chinese | 9 | 6 | 0 | 3 | Dizziness, dementia, muscle spasms, and cramps; 2 asymptomatic | Serum calcium and PTH | +++ (BBG, cerebellum) | |
| F10 | 6 | 3 | 0 | 3 | Serum calcium and PTH | NP | |||
| F11 | German/Irish | 5 | 2 | 0 | 3 | Dizziness and syncope, speech delay, cognitive delay, tremor, global developmental delay, family member with bipolar disorder | Serum calcium and PTH | +++ (BBG, thalamus, white matter) | NP |
| F12 | Spanish | 5 | 2 | 2 | 1 | No cognitive or movement disorder, neurosensorial hearing loss, myopia, astigmatism, migraine headache, scoliosis, pescavus | +++ (BBG, thalamus, cerebellum, brainstem, cortico-subcortical) | ||
| F13 | Finnish/Swedish | 4 | 4 | 0 | 0 | Migraine, speech difficulties, essential tremor, and neuropsychiatric symptoms | Serum calcium and PTH | +++ (BBG, thalamus, white matter, and cerebellum) | NP |
| F14 | 4 | 3 | 0 | 1 | Dysarthria, micrographia, balance disorder | Serum calcium and PTH | NP | ||
| F15 | 3 | 2 | 0 | 1 | Depression and muscle spasms | Serum calcium and PTH | NP | ||
| F16 | Portuguese | 3 | 3 | 0 | 0 | Migraine, vertigo, anxiety, depression, personality and behavioral problems, intellectual and language delay | ++ (BBG, dentate nuclei calcification by fifth decade), + (earlier decades) | NP | |
| F17 | Thai | 3 | 2 | 0 | 1 | Parkinsonism, dystonia, ataxia, cognitive impairment, psychosis, paraparesis | Serum calcium and PTH | +++ (BBG, subcortical) | NP |
| F18 | Libyan | 2 | 1 | 0 | 1 | Serum calcium and PTH | NP | ||
| F19 | 2 | 1 | 1 | 0 | Clawed hand and slurred speech, dopa-responsive parkinsonism | Serum calcium and PTH | +++ (BBG, cerebellum, subcortical white matter, bilateral temporal lobes) | NP | |
| F20 | English/Irish, German | 2 | 2 | 0 | 0 | Fainting episodes, complaint of headache, no cognitive impairment | Serum calcium and PTH | NP | |
| F21 | Spanish | 2 | 2 | 0 | 0 | Dopa-responsive parkinsonism, dysarthria, subcortical cognitive impairment, stroke | +++ (BBG, cerebellum) | NP | |
| F22 | 1 | 1 | 0 | 0 | Dystonia, cramps, depression, insomnia, headaches, and muscle spasms | Serum calcium and PTH | +++ (BBG, dentate nucleus) | NP | |
| F23 | Ashkenazi Jewish/Russian | 1 | 1 | 0 | 0 | Asymptomatic (1), tremor, psychosis, behavioral problems (1), parkinsonism (1) | Serum calcium and PTH | NP | |
| F24 | French | 1 | 1 | 0 | 0 | Severe migraine | Serum calcium and PTH | ++ (white matter, thalamus) | NP |
| F25 | (Asian) Indian | 1 | 1 | 0 | 0 | Headaches, movement disorders | Serum calcium and PTH | NP | |
| F26 | Scottish | 1 | 1 | 0 | 0 | Serum calcium and PTH | NP | ||
| F27 | Spanish | 1 | 1 | 0 | 0 | Dementia, psychiatric disorder, parkinsonism, facial palsy, leukemia | +++ (BBG, cerebellum) | NP | |
| F28 | Spanish | 1 | 1 | 0 | 0 | Mild cognitive impairment, ataxia | +++ (BBG, subcortical, cerebellum) | NP | |
| F29 | European (Irish, English, Hungarian) | 1 | 1 | 0 | 0 | Segmental dystonia (cervical and torso); mild frontal and subcortical findings on neuropsychological testing (slowed processing speed, difficulty with learning and retrieval); family history of dementia and multiple sclerosis | Serum calcium and PTH | +++ (BBGC, dentate) | NP |
BBG bilateral basal ganglia, NP unpublished, PTH parathormone