PFBC (synonyms Fahr disease, PBGC, symmetric basal ganglia calcification, etc.) ORPHA:1980
Conditions
Interventions
Group 1: Patients diagnosed with PFBC (synonym Fahr's disease, PBGC, symmetric basal ganglia calcification, etc.) undergo a neurological examination every 12 months (i.e., T1 + all follow-up examinati
norms according to Haid et al.), CERAD+ (only for persons > 50 years of age), Mini-Mental State Test (MMST from CERAD, only for persons < 50 years of age), Phonemic Word Fluency (RWT): S-words 1 min.
Sponsors
Klinik für Neurologie der Universitätsklinik Ulm (RKU Ulm)
Eligibility
Sex/Gender
All
Age
18 Years to No maximum
Inclusion criteria
Inclusion criteria: - Patients diagnosed with PFBC (synonyms Fahr disease, PBGC, symmetric basal ganglia calcification, etc.) - Healthy control subjects, usually relatives of a person affected by PFBC (e.g., partner, family member, friend) - Asymptomatic subjects with imaging findings of PFBC - Patients with another neurological diagnosis suitable for a differential diagnostically relevant control population (e.g., FTD, Alzheimer's disease, Parkinson's disease, ataxias)
Exclusion criteria
Exclusion criteria: - Patients unable to consent without a legal guardian
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| (1) Functional limitations in Fahr's disease -Fahr score Performed at T1 + all follow-up examinations (every 12 months). (2) Neurological functional limitations, especially Parkinson's symptoms, coordination and ataxia -Neurological examination -Unified Parkinson's disease ranking scale (UPDRS) -The Parkinson's Disease Questionnaire (PDQ-39) -The Essential Tremor Rating Assessment Scale (TETRAS) -Scale for the assessment and rating of ataxia (SARA) Performed at T1 + all follow-up examinations (every 12 months). (3) Cognitive performance (memory, attention, executive functions, social cognition) -MoCA Performed at T1 + all follow-up examinations (every 12 months). The following tests are performed starting at T1 at 24-month intervals (i.e., T3, T5, etc.): -Numeracy and Block Span Forward and Backward (WMS-R) -Recognition Memory Test for Faces -Matrices Test + Finding Similarities (WAIS-IV) -Alertness + Go-No-Go (TAP) -Mental Rotation: LPS-7 (LPS-50+) -Color-Word Interference Test according to Bäumler -5-Item Test (HaMaSch; norms according to Haid et al.) -CERAD+ (only for individuals > 50 years of age) -Mini-Mental State Examination (MMST from CERAD, only for individuals < 50 years of age) -Phonemic Word Fluency (RWT): S-words 1 min. (only for individuals < 50 years of age) -Semantic Word Fluency (RWT): Animals 1 min. (only for individuals < 50 years) -Word List Learning + Retrieval and Recognition (VLMT, only for individuals < 50 years) -Visual Replay I, II, and Recognition (WMS-IV, only for individuals < 50 years) -Naming (short version BNT from CERAD, only for individuals < 50 years) -Trail-Making Test (Tombaugh norms, only for individuals < 50 years) (4) Language Performance -Assessment of Spontaneous Speech (AAT) Performed starting at T1 at 24-month intervals (i.e., T3, T5, etc.). (5) Motor Performance -Grooved Pegboard (dominant and non-dominant hand; norms according to Ruff & Parker) -Dementia Apraxia Test -Orientational test of bimanual motor control acc | — |
Secondary
| Measure | Time frame |
|---|---|
| (1) Baseline clinical data + activities of daily living - Medical history - Barthel-Index Performed at T1 + all follow-up examinations (every 12 months). (2) Handedness - Handedness Questionnaire Performed at T1. (3) Visual acuity - Oculomotor measurement (QORMIND) Performed at T1 + all follow-up examinations (every 12 months). (4) Eating behavior - Eating Assessment Tool (EAT) Performed at T1 + all follow-up examinations (every 12 months). | — |
Countries
Germany
Contacts
Public ContactEva Fleiner
Klinik für Neurologie der Universitätsklinik Ulm (RKU Ulm)
Outcome results
None listed