Differentiation of neuropsychological features between posterior cortical atrophy and early onset Alzheimer’s disease

Alzheimer’s disease usually presents in older age with progressive episodic memory loss. Atypical presentations of Alzheimer’s disease occur and involve non-amnestic and early-onset forms of the disease. Posterior cortical atrophy (PCA) and logopenic progressive aphasia (lvPPA) are two well-described syndromes that are most commonly due to atypical presentations of Alzheimer’s disease. PCA is a higher-order disturbance of vision whilst lvPPA is characterized by hesitant speech with word-finding difficulties and problems with repetition of words and phrases. Early-onset Alzheimer’s disease presents before the age of 65 and typically consists of a constellation of progressive cortical deficits including language disturbance, apraxia, visuospatial deficits, and poor working memory. Alzheimer’s disease may rarely be inherited because of an autosomal dominant mutation in one of three genes (PSEN1, PSEN2, and APP). Recognition and accurate diagnosis of these atypical forms is vital to ensure patients receive the most appropriate care and treatment.

Download Full-text

Pathogenic PSEN1 Glu184Gly Mutation in a Family from Thailand with Probable Autosomal Dominant Early Onset Alzheimer’s Disease

Diagnostics ◽

10.3390/diagnostics10030135 ◽

2020 ◽

Vol 10 (3) ◽

pp. 135

Author(s):

Vorapun Senanarong ◽

Seong Soo A. An ◽

Vo Van Giau ◽

Chanin Limwongse ◽

Eva Bagyinszky ◽

...

Keyword(s):

Alzheimer’S Disease ◽

Alzheimer's Disease ◽

Early Onset ◽

Structural Changes ◽

3D Models ◽

Pathogenic Mutation ◽

Cortical Atrophy ◽

Genetic Profiling ◽

First Case ◽

Early Onset Alzheimer’S Disease

A pathogenic mutation in PSEN1 p.Glu184Gly was discovered in a Thai family with early onset Alzheimer’s disease (EOAD) as the first case in Asia. Proband patient presented memory impairment and anxiety at the age of 41 years. Family history was positive, since several family members were also diagnosed with dementia (father and grandfather). MRI in the patient revealed global cortical atrophy without specific lesions or lacuna infarctions. Extensive genetic profiling for 50 neurodegenerative disease related genes was performed by next generation sequencing (NGS) on the patient. PSEN1 Glu184Gly was previously reported in French families with frontal variant Alzheimer’s disease (AD). Interestingly, this mutation is located near the splicing site and could possibly result in abnormal cleavage of PSEN1 transcript. Furthermore, 3D models from protein structural predictions revealed significant structural changes, since glycine may result in increased flexibility of TM-III helix. Inter/intra-helical interactions could also be altered. In the future, functional studies should be performed to verify the probable role PSEN1 Glu184Gly in amyloid beta processing and pathogenicity.

Download Full-text

Early-Onset Alzheimer’s Disease Masquerading as Catatonia

Case Reports in Neurological Medicine ◽

10.1155/2020/1493481 ◽

2020 ◽

Vol 2020 ◽

pp. 1-5

Author(s):

Aljoharah Alakkas ◽

Aaron Meyer ◽

Eric Debbold ◽

Raisa Yagudayeva ◽

Jonathan Bui

Keyword(s):

Alzheimer’S Disease ◽

Alzheimer's Disease ◽

Early Onset ◽

Disease Diagnosis ◽

Cortical Atrophy ◽

Spontaneous Movement ◽

Biological Father ◽

Her Family ◽

Early Onset Alzheimer’S Disease ◽

Standard Medical Treatment

A 35-year-old woman with a history of sexual trauma was brought in by her family for further evaluation of depressive symptoms and progressive decline in activities of daily living. She was admitted to the inpatient psychiatric unit for the treatment of suspected catatonia. After failure to respond to standard medical treatment, she received an extensive workup, which ultimately revealed a PSEN1 mutation consistent with early-onset Alzheimer’s disease. Diagnosis was challenging because of her young age, lack of reliable family history, and reports of recent sexual abuse by her biological father. This case is a cautionary reminder for clinicians that end stages of dementia can present similar to catatonia with mutism, lack of spontaneous movement, and refusal to eat. The clues to the diagnosis were profound cortical atrophy and lack of improvement with optimal medical management.

Download Full-text