Differential Diagnosis for a 70-year-old Lady with Gait Disturbances and Frontotemporal Atrophy

• Single most likely diagnosis

  • Frontotemporal Dementia (FTD) with Parkinsonism: The patient's symptoms of difficulty initiating walking, short stepping gait, and unsteadiness, combined with frontotemporal atrophy on MRI and a family history, strongly suggest FTD with parkinsonism. FTD is a group of brain disorders caused by cell degeneration in the brain's frontal and temporal lobes, and it can present with significant motor symptoms, including parkinsonism.

• Other Likely diagnoses

  • Progressive Supranuclear Palsy (PSP): PSP is a rare brain disorder that causes serious problems with walking, balance, and eye movements, and it can present with similar symptoms to FTD, including difficulty with gait and balance. The frontotemporal atrophy could be consistent with PSP, although the lack of significant supranuclear gaze palsy might make this less likely.
  • Corticobasal Degeneration (CBD): CBD is another neurodegenerative disorder that can cause movement problems, including difficulty with gait and balance, as well as cognitive decline. While it can present with asymmetric symptoms, the family history and specific gait disturbances might lean more towards FTD with parkinsonism.

• Do Not Miss diagnoses

  • Normal Pressure Hydrocephalus (NPH): Although the MRI does not show significant ventricular enlargement, NPH can sometimes present with subtle changes on imaging. The classic triad of NPH includes gait disturbance, dementia, and urinary incontinence. Given the potential for significant improvement with shunting, NPH should be considered, even if the imaging is not typical.
  • Vitamin B12 Deficiency: A deficiency in vitamin B12 can cause neurological symptoms, including gait disturbances and cognitive decline. It's a treatable condition, and missing it could lead to irreversible neurological damage.

• Rare diagnoses

  • Huntington's Disease: Although typically associated with chorea, Huntington's disease can present with a variety of movement disorders, including parkinsonism. The age of onset and family history might make this less likely, but it's a consideration in the differential diagnosis of movement disorders with cognitive decline.
  • Spinocerebellar Ataxia (SCA): SCAs are a group of autosomal dominant disorders that primarily affect the cerebellum, causing ataxia. Some forms can present with additional features, including parkinsonism and cognitive decline. The family history of a similar condition could suggest a genetic ataxia, although the specific symptoms and imaging findings might not fully align.